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Adenylosuccinate Lyase Deficiency

Adenylosuccinate Lyase Deficiency (ADSL deficiency / ASLD): Comprehensive Disease Characteristics Report

2026-05-03
Falcon MONDO:0007068 Model: Edison Scientific Literature 32 citations

Adenylosuccinate Lyase Deficiency (ADSL deficiency / ASLD): Comprehensive Disease Characteristics Report

Executive summary

Adenylosuccinate lyase deficiency (also called adenylosuccinase deficiency; ADSL deficiency; ASLD) is an ultra-rare, autosomal recessive inborn error of purine metabolism caused by biallelic pathogenic variants in ADSL, leading to reduced adenylosuccinate lyase activity in de novo purine synthesis and the purine nucleotide cycle and accumulation of the succinylpurine metabolites SAICAr and succinyladenosine (S‑Ado) in extracellular fluids. Clinical presentation is predominantly neurologic and includes developmental delay/intellectual disability, hypotonia, epilepsy (often intractable), microcephaly, and autistic features, with a spectrum from fatal neonatal encephalopathy to milder later-onset disease. (jurecka2015adenylosuccinatelyasedeficiency pages 1-3, donti2016diagnosisofadenylosuccinate pages 1-2, cutillo2024electroclinicalfeaturesand pages 1-2)

1. Disease information

1.1 Definition and overview

A widely cited review defines the disorder as a purine metabolism defect with characteristic metabolite accumulation: “Biochemically this defect manifests by the presence in the biologic fluids of two dephosphorylated substrates of ADSL enzyme: succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado).” (Journal of Inherited Metabolic Disease, online 2014; print Aug 2015) (jurecka2015adenylosuccinatelyasedeficiency pages 1-3).

1.2 Key identifiers

Table (click to expand)
Identifier system ID Label Notes/Source URL
MONDO MONDO_0007068 adenylosuccinate lyase deficiency Disease-target association record identifies MONDO_0007068 as “adenylosuccinate lyase deficiency.” https://platform.opentargets.org/disease/MONDO_0007068 (jurecka2015adenylosuccinatelyasedeficiency pages 1-3)
OMIM 103050 Adenylosuccinate Lyase Deficiency OMIM disease number explicitly cited in the literature and model-organism papers as “OMIM 103050” / “OMIM #103050.” https://omim.org/entry/103050 (donti2016diagnosisofadenylosuccinate pages 1-2, jurecka2015adenylosuccinatelyasedeficiency pages 1-3, moro2023adenylosuccinatelyasedeficiency pages 1-2)
MeSH (suggested) Not confirmed in retrieved papers; clinical trial record uses disease label Adenylosuccinate Lyase Deficiency ClinicalTrials.gov record lists the condition/MeSH-linked term “Adenylosuccinate lyase deficiency.” Suggested MeSH label for indexing/search; verify exact MeSH UID in NLM MeSH Browser. https://clinicaltrials.gov/study/NCT03776656 (NCT03776656 chunk 2)
ClinicalTrials.gov condition label NCT03776656 Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency Interventional phase II study naming the disease directly; useful practical identifier for recent clinical research. https://clinicaltrials.gov/study/NCT03776656 (NCT03776656 chunk 2, NCT03776656 chunk 1)
Synonym — ADSL deficiency Common literature shorthand used throughout reviews and case reports. https://doi.org/10.1007/s10545-014-9755-y ; https://doi.org/10.1016/j.ymgmr.2016.07.007 (donti2016diagnosisofadenylosuccinate pages 1-2, jurecka2015adenylosuccinatelyasedeficiency pages 1-3)
Synonym — ASLD Abbreviation used in 2023 mechanistic/model-organism literature for adenylosuccinate lyase deficiency. https://doi.org/10.1371/journal.pgen.1010974 ; https://doi.org/10.1016/j.ymgme.2023.107686 (moro2023adenylosuccinatelyasedeficiency pages 1-2, fenton2023acaenorhabditiselegans pages 1-3)
Synonym — Adenylosuccinase deficiency Historical/alternate enzyme-based synonym seen in purine-metabolism literature and references discussing ASL deficiency. https://doi.org/10.1016/j.ymgme.2023.107686 (fenton2023acaenorhabditiselegans pages 15-16)

Table: This table summarizes the core disease identifiers and commonly used synonyms for adenylosuccinate lyase deficiency. It is useful for harmonizing nomenclature across OMIM, MONDO, clinical trial records, and literature sources.

Additional identifiers not confirmed in retrieved full-text: Orphanet (ORPHA ID), ICD-10/ICD-11 codes, and MeSH Unique ID (UID) were not explicitly present in the retrieved literature text; these should be verified in Orphanet/ICD/MeSH browsers and then mapped to the knowledge base entry.

1.3 Common synonyms

1.4 Evidence source types

2. Etiology

2.1 Disease causal factors

Primary cause: biallelic pathogenic variants in ADSL causing reduced adenylosuccinate lyase function and accumulation of succinylpurines. The disorder is described as “a rare autosomal recessive neurometabolic disorder” caused by loss of ADSL enzymatic activity (donti2016diagnosisofadenylosuccinate pages 1-2, jurecka2015adenylosuccinatelyasedeficiency pages 1-3).

Molecular defect: ADSL catalyzes two non-sequential steps in de novo purine synthesis; in a 2023 paper’s abstract, “Adenylosuccinate lyase is required for de novo purine biosynthesis, acting twice in the pathway at non-sequential steps.” (PLOS Genetics, Sep 2023) (moro2023adenylosuccinatelyasedeficiency pages 1-2).

2.2 Risk factors

2.3 Protective factors / gene–environment interactions

No validated protective alleles or gene–environment interactions were identified in the retrieved evidence. Supportive factors may include early diagnosis and optimized symptomatic management (e.g., seizure control), but these are not “protective factors” in a causal sense (cutillo2024electroclinicalfeaturesand pages 14-15).

3. Phenotypes

3.1 Core phenotype spectrum and subtypes

A foundational review describes three clinical groupings and gives hallmark neonatal and pediatric presentations, including: “The fatal neonatal form has onset from birth… respiratory failure, and intractable seizures… early death within the first weeks of life.” and later forms with severe neurodevelopmental features. (jurecka2015adenylosuccinatelyasedeficiency pages 1-3)

A 2024 long-term cohort + literature appraisal provides a quantitative view of the spectrum (n=88 total, including 7 new and 81 literature cases): - Type I: 58% (51/88) - Type II: 28% (25/88) - Neonatal: 14% (12/88) (cutillo2024electroclinicalfeaturesand pages 1-2)

3.2 Epilepsy and electroclinical features (2024 update)

Epilepsy is common and often severe; the 2024 appraisal reports: “Epilepsy is present in 81.8% of the patients, with polymorphic and often intractable seizures.” (Epilepsia Open, Nov 2024) (cutillo2024electroclinicalfeaturesand pages 1-2).

The same paper summarizes typical EEG evolution: “EEG features seem to display common patterns and developmental trajectories: (i) poor general back-ground organization with theta-delta activity; (ii) hypsarrhythmia with spasms, usually adrenocorticotropic hormone-responsive; (iii) generalized epileptic discharges with frontal or frontal temporal predominance; and (iv) epileptic discharge activation in sleep with an altered sleep structure.” (cutillo2024electroclinicalfeaturesand pages 1-2).

3.3 Neurodevelopmental and neuromuscular phenotypes

A 2023 mechanistic/model-organism paper summarizes human features and emphasizes neuromuscular and neurobehavioral dysfunction; its abstract begins: “Adenylosuccinate lyase deficiency is an ultrarare congenital metabolic disorder associated with muscle weakness and neurobehavioral dysfunction.” (PLOS Genetics, Sep 2023) (moro2023adenylosuccinatelyasedeficiency pages 1-2).

Commonly described clinical features across reviews/cohorts include: - Developmental delay/intellectual disability; severe psychomotor retardation (jurecka2015adenylosuccinatelyasedeficiency pages 1-3, donti2016diagnosisofadenylosuccinate pages 1-2) - Hypotonia; ataxia; dystonia (reported in clinical cohorts) (cutillo2024electroclinicalfeaturesand pages 2-4) - Autistic features/contact disturbances (jurecka2015adenylosuccinatelyasedeficiency pages 1-3, camici2023inbornerrorsof pages 9-11) - Progressive cerebral/cerebellar atrophy and white matter changes on MRI in more severe phenotypes (cutillo2024electroclinicalfeaturesand pages 1-2, cutillo2024electroclinicalfeaturesand pages 2-4)

3.4 Suggested HPO terms (non-exhaustive; to be validated per case)

Based on phenotypes described in the cited literature (jurecka2015adenylosuccinatelyasedeficiency pages 1-3, cutillo2024electroclinicalfeaturesand pages 1-2, cutillo2024electroclinicalfeaturesand pages 2-4): - Seizures (HP:0001250) - Epileptic spasms / Infantile spasms (HP:0012469) - Hypsarrhythmia (HP:0012465) - Global developmental delay (HP:0001263) - Intellectual disability (HP:0001249) - Hypotonia (HP:0001252) - Microcephaly (HP:0000252) - Autism (HP:0000717) / Autistic features - Ataxia (HP:0001251) - Dystonia (HP:0001332) - Cerebral atrophy (HP:0002059) - Cerebellar atrophy (HP:0001272)

3.5 Quality of life impact

No disease-specific QoL instruments were identified in the retrieved texts; however, long-term follow-up cases include severe disability (e.g., chronic refractory epilepsy, progressive neurodisability) implying major functional dependence (cutillo2024electroclinicalfeaturesand pages 2-4, cutillo2024electroclinicalfeaturesand pages 14-15).

4. Genetic / molecular information

4.1 Causal gene

4.2 Variant spectrum and genotype–phenotype

The 2015 review notes: “Over 50 ADSL mutations have been identified” and the disorder is genetically heterogeneous (many private variants; frequent compound heterozygosity) (jurecka2015adenylosuccinatelyasedeficiency pages 1-3, jurecka2015adenylosuccinatelyasedeficiency pages 4-6).

The 2024 appraisal reports the most frequently observed variants in compiled cases: “p.R426H homozygous (19 patients), p.Y114H in compound heterozygo-sity (13 patients), and p.D430N homozygous (6 patients).” (cutillo2024electroclinicalfeaturesand pages 1-2).

Genotype–phenotype relationships remain incomplete, but severity is suggested to track residual enzyme activity and certain variants are enriched in severe neonatal/type I phenotypes (cutillo2024electroclinicalfeaturesand pages 14-15).

4.3 Population data / carrier frequencies

From a 2016 diagnostic study referencing ExAC for ADSL p.Arg426His: - p.Arg426His is reported as the most common ADSL variant in ExAC, present on 31 chromosomes heterozygously, with allelic frequency 0.000255 and estimated carrier frequency ~1/2000; most carriers were non-Finnish European (28/31). (Molecular Genetics and Metabolism Reports, Sep 2016) (donti2016diagnosisofadenylosuccinate pages 3-4).

A 2015 review provided a broader, older estimate: an “estimated carrier (heterozygote) probability for a pathogenic ADSL allele of about 1:10,000.” (jurecka2015adenylosuccinatelyasedeficiency pages 4-6). Differences likely reflect method/variant set and database updates; current carrier frequency should be re-estimated using contemporary gnomAD with careful pathogenicity filtering.

4.4 Functional consequences

Evidence across reviews and model-organism work supports a dual mechanism: - Toxic substrate accumulation (SAICAR/SAICAr and related succinylpurines) - Reduced purine biosynthetic flux and impaired purine homeostasis

The C. elegans neurobehavioral work explicitly argues that altered behavior likely arises from accumulated substrate toxicity rather than only purine shortage (moro2023adenylosuccinatelyasedeficiency pages 1-2, moro2023adenylosuccinatelyasedeficiency pages 9-11).

5. Environmental information

No specific toxins, lifestyle factors, or infectious triggers were identified in the retrieved evidence. The disorder is primarily genetic, and management focuses on symptomatic care and experimental metabolic interventions (jurecka2015adenylosuccinatelyasedeficiency pages 1-3, camici2023inbornerrorsof pages 9-11).

6. Mechanism / pathophysiology

6.1 Pathway context

ADSL is required for de novo purine biosynthesis and acts twice at non-sequential steps (moro2023adenylosuccinatelyasedeficiency pages 1-2). A clinical review focused on epilepsy reiterates the enzymatic steps and toxic metabolite hypothesis in ADSL deficiency (shi2025thediagnosisand pages 1-3).

Biochemical hallmark: accumulation of SAICAr and S‑Ado in extracellular fluids (urine, CSF, plasma) (jurecka2015adenylosuccinatelyasedeficiency pages 1-3, jurecka2015adenylosuccinatelyasedeficiency pages 8-9).

6.2 Proposed causal chain (integrated)

1) Biallelic ADSL variants → reduced ADSL activity (jurecka2015adenylosuccinatelyasedeficiency pages 1-3, donti2016diagnosisofadenylosuccinate pages 1-2) 2) Block at ADSL-catalyzed steps → accumulation of phosphorylated substrates → extracellular dephosphorylated succinylpurines (SAICAr, S‑Ado) (jurecka2015adenylosuccinatelyasedeficiency pages 8-9, jurecka2015adenylosuccinatelyasedeficiency pages 1-3) 3) Neurodevelopmental dysfunction via a combination of toxic metabolite effects and purine imbalance; model-organism data show broader metabolic perturbations (e.g., neurotransmitter signaling disruption) downstream of purine pathway disruption (moro2023adenylosuccinatelyasedeficiency pages 1-2, moro2023adenylosuccinatelyasedeficiency pages 9-11) 4) Clinical manifestations: developmental delay/intellectual disability, hypotonia/ataxia, epilepsy with characteristic EEG patterns, and progressive neuroimaging abnormalities in severe phenotypes (cutillo2024electroclinicalfeaturesand pages 1-2, cutillo2024electroclinicalfeaturesand pages 2-4)

6.3 Mechanistic advances (2023–2024)

Neurobehavioral mechanism in C. elegans (2023): substrate accumulation due to adsl-1 deficiency perturbs tyrosine metabolism and tyramine signaling; behavioral phenotypes are rescued by tyramine supplementation and involve TYRA-2 receptor signaling (moro2023adenylosuccinatelyasedeficiency pages 1-2, moro2023adenylosuccinatelyasedeficiency pages 11-13, moro2023adenylosuccinatelyasedeficiency pages 9-11).

Separability of phenotypic etiologies (2023): a C. elegans model suggests neuromuscular defects associate with intermediate accumulation while reproductive defects are rescued by purine supplementation—supporting the concept that multiple downstream mechanisms contribute to phenotype heterogeneity (fenton2023acaenorhabditiselegans pages 1-3, fenton2023acaenorhabditiselegans pages 8-9).

6.4 Suggested ontology terms

GO Biological Process (suggested): - de novo IMP biosynthetic process (purine biosynthesis) - AMP biosynthetic process - purine nucleotide metabolic process

GO Molecular Function (suggested): - adenylosuccinate lyase activity

Cell types (CL; suggested, based on neurologic phenotype/EEG patterns): - neurons (CL:0000540) - astrocytes (CL:0000127) - oligodendrocytes (CL:0000128)

Anatomy (UBERON; suggested): - brain (UBERON:0000955) - cerebellum (UBERON:0002037) - cerebral cortex/frontal lobe (UBERON mapping; frontal predominance described on imaging) (cutillo2024electroclinicalfeaturesand pages 1-2)

7. Anatomical structures affected

Human cohorts and reviews emphasize CNS involvement with imaging showing cerebral/cerebellar atrophy and white matter abnormalities in many patients (cutillo2024electroclinicalfeaturesand pages 1-2, cutillo2024electroclinicalfeaturesand pages 2-4). Neuromuscular involvement (hypotonia, muscle weakness) is frequently noted (moro2023adenylosuccinatelyasedeficiency pages 1-2).

8. Temporal development

9. Inheritance and population

10. Diagnostics

10.1 Biochemical testing (core real-world implementation)

The most established diagnostic hallmark is detecting elevated succinylpurines. The review states: “Diagnosis is facilitated by demonstration of SAICAr and S-Ado in extracellular fluids such as plasma, cerebrospinal fluid…” (jurecka2015adenylosuccinatelyasedeficiency pages 1-3).

Methods described include HPLC-UV/HPLC-MS and high-throughput HPLC-ESI-MS/MS approaches; urine is commonly used, with CSF and plasma also reported (jurecka2015adenylosuccinatelyasedeficiency pages 8-9).

10.2 Metabolomics-based diagnosis

A 2016 study demonstrated untargeted plasma metabolomics as an alternative route to diagnosis and phenotype expansion, describing ADSL deficiency as OMIM 103050 and emphasizing SAICAr/S‑Ado accumulation as the biochemical hallmark typically detected in urine (donti2016diagnosisofadenylosuccinate pages 1-2).

10.3 Genetic testing

Diagnostic confirmation includes genomic sequencing (single-gene testing, panels, WES/WGS) and sometimes functional enzyme assessment; WES is emphasized as valuable for atypical/mild phenotypes (macchiaiolo2017amildform pages 7-7, jurecka2015adenylosuccinatelyasedeficiency pages 8-9).

10.4 Differential diagnosis

Not comprehensively extracted from the retrieved texts. In practice, differential diagnosis includes other inborn errors of metabolism presenting with developmental epileptic encephalopathy; nucleotide metabolism epilepsy reviews discuss ADSL deficiency among other nucleic acid/nucleotide disorders (shi2025thediagnosisand pages 1-3).

10.5 Newborn screening

No evidence in retrieved texts confirms routine newborn screening implementation for ADSL deficiency; given the need for specialized metabolite testing and uncertain treatability, ADSL deficiency is not established as a standard NBS target in the retrieved evidence.

11. Outcomes / prognosis

Outcomes depend strongly on subtype. Neonatal forms can be fatal in weeks (jurecka2015adenylosuccinatelyasedeficiency pages 1-3). Long-term follow-up (10–34 years) demonstrates survival into adulthood for some patients, but with severe disability and often drug-resistant epilepsy in type I and neonatal phenotypes (cutillo2024electroclinicalfeaturesand pages 2-4, cutillo2024electroclinicalfeaturesand pages 14-15).

12. Treatment

12.1 Current standard-of-care (real-world)

There is no proven disease-modifying therapy; reviews emphasize symptomatic management. The 2015 review states: “To date there is no specific and effective therapy for ADSL deficiency.” (jurecka2015adenylosuccinatelyasedeficiency pages 1-3).

Supportive/standard management includes: - Anti-seizure medications (ASM); some benefit in milder cases (cutillo2024electroclinicalfeaturesand pages 14-15) - Developmental therapies and supportive care (implied; not detailed in retrieved texts)

12.2 Allopurinol (repurposing; clinical trial implementation)

ClinicalTrials.gov NCT03776656 (Phase 2, single-group, n=8, completed) evaluated oral allopurinol for 12 months. Key details: - Primary endpoint: Vineland II adaptive behavior composite score at 12 months (NCT03776656 chunk 1) - Biochemical endpoints: serial urinary and plasma SAICAr and S‑Ado (NCT03776656 chunk 2, NCT03776656 chunk 1) - Trial rationale notes the hypothesis that allopurinol reduces production of toxic SAICAr, and the protocol states the hypothesis “was validated in 3 minor patients with biological and clinical improvement” (NCT03776656 chunk 1).

The trial record also cites a linked publication (not retrievable here) titled: “Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency” (PMID listed in the record) (NCT03776656 chunk 2). Interpretation should be cautious until full peer-reviewed results are examined.

12.3 Other attempted metabolic interventions (limited/experimental)

Across reviews and cohort appraisal, reported attempts include: - Ketogenic diet trials with transient effects (camici2023inbornerrorsof pages 9-11) - D-ribose (inconsistent/limited evidence) (camici2023inbornerrorsof pages 9-11, cutillo2024electroclinicalfeaturesand pages 14-15) - S-adenosyl-L-methionine (limited success) (cutillo2024electroclinicalfeaturesand pages 14-15) - Uridine (mentioned among attempted therapies in epilepsy-focused reviews) (shi2025thediagnosisand pages 1-3)

12.4 Suggested MAXO terms (examples)

  • Allopurinol therapy (MAXO term to be mapped)
  • Anticonvulsant therapy
  • Ketogenic diet therapy
  • Genetic counseling

13. Prevention

Primary prevention is not applicable beyond reproductive options because this is a Mendelian disorder. - Carrier screening / cascade testing in families; prenatal diagnosis is described as limited to families with an affected child and relies on mutation testing (jurecka2015adenylosuccinatelyasedeficiency pages 8-9). - Secondary prevention: earlier diagnosis to optimize seizure control and supportive interventions (jurecka2015adenylosuccinatelyasedeficiency pages 8-9).

14. Other species / natural disease

No naturally occurring veterinary syndrome was identified in the retrieved evidence.

15. Model organisms

15.1 C. elegans (2023): mechanistic and translational utility

Two 2023 studies establish and leverage a C. elegans adsl-1 model: - Neuromuscular and reproductive phenotypes with separable etiologies; some mobility defects reversible; fertility rescued by purine supplementation (fenton2023acaenorhabditiselegans pages 1-3, fenton2023acaenorhabditiselegans pages 8-9) - Neurobehavioral phenotypes driven by disrupted tyramine signaling downstream of adsl-1 deficiency; tyramine supplementation rescues gustatory plasticity phenotype (moro2023adenylosuccinatelyasedeficiency pages 1-2, moro2023adenylosuccinatelyasedeficiency pages 11-13, moro2023adenylosuccinatelyasedeficiency pages 9-11)

Applications: pathway dissection (substrate toxicity vs purine deficiency), screening candidate interventions (e.g., pathway inhibitors or supplementation), and probing neurobehavioral mechanisms (fenton2023acaenorhabditiselegans pages 8-9, moro2023adenylosuccinatelyasedeficiency pages 9-11).

Key recent developments (2023–2024) — highlights

  • Clinical natural history/electroclinical patterns (2024): consolidated cohort of 88 patients, epilepsy prevalence 81.8%, and described EEG trajectories and imaging patterns (cutillo2024electroclinicalfeaturesand pages 1-2).
  • Mechanistic expansion (2023): evidence that ADSL deficiency can perturb neurotransmitter pathways (tyramine signaling) in vivo in a genetic model, supporting wider metabolic effects beyond purine synthesis itself (moro2023adenylosuccinatelyasedeficiency pages 1-2).

Limitations of this report (evidence gaps)

  • Orphanet (ORPHA), ICD-10/ICD-11, and definitive MeSH UID were not directly extractable from the retrieved full text and should be added via dedicated database queries.
  • The linked allopurinol results publication cited by ClinicalTrials.gov could not be retrieved in full text in this run; conclusions about efficacy should be treated as provisional until peer-reviewed results are reviewed (NCT03776656 chunk 2).

References

  1. (jurecka2015adenylosuccinatelyasedeficiency pages 1-3): Agnieszka Jurecka, Marie Zikanova, Stanislav Kmoch, and Anna Tylki‐Szymańska. Adenylosuccinate lyase deficiency. Journal of Inherited Metabolic Disease, 38:231-242, Aug 2015. URL: https://doi.org/10.1007/s10545-014-9755-y, doi:10.1007/s10545-014-9755-y. This article has 158 citations and is from a peer-reviewed journal.

  2. (donti2016diagnosisofadenylosuccinate pages 1-2): Taraka R. Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa T. Emrick, and Sarah H. Elsea. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Molecular Genetics and Metabolism Reports, 8:61-66, Sep 2016. URL: https://doi.org/10.1016/j.ymgmr.2016.07.007, doi:10.1016/j.ymgmr.2016.07.007. This article has 66 citations.

  3. (cutillo2024electroclinicalfeaturesand pages 1-2): Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, and Pierangelo Veggiotti. Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: long‐term follow‐up of seven patients from four families and appraisal of the literature. Epilepsia Open, 9:106-121, Nov 2024. URL: https://doi.org/10.1002/epi4.12837, doi:10.1002/epi4.12837. This article has 5 citations and is from a peer-reviewed journal.

  4. (moro2023adenylosuccinatelyasedeficiency pages 1-2): Corinna A. Moro, Sabrina A. Sony, Latisha P. Franklin, Shirley Dong, Mia M. Peifer, Kathryn E. Wittig, and Wendy Hanna-Rose. Adenylosuccinate lyase deficiency affects neurobehavior via perturbations to tyramine signaling in caenorhabditis elegans. PLOS Genetics, 19:e1010974, Sep 2023. URL: https://doi.org/10.1371/journal.pgen.1010974, doi:10.1371/journal.pgen.1010974. This article has 8 citations and is from a domain leading peer-reviewed journal.

  5. (NCT03776656 chunk 2): Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency. Assistance Publique - Hôpitaux de Paris. 2019. ClinicalTrials.gov Identifier: NCT03776656

  6. (NCT03776656 chunk 1): Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency. Assistance Publique - Hôpitaux de Paris. 2019. ClinicalTrials.gov Identifier: NCT03776656

  7. (fenton2023acaenorhabditiselegans pages 1-3): Adam R. Fenton, Haley N. Janowitz, Latisha P. Franklin, Riley G. Young, Corinna A. Moro, Michael V. DeGennaro, Melanie R. McReynolds, Wenqing Wang, and Wendy Hanna-Rose. A caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology. Molecular Genetics and Metabolism, 140:107686, Nov 2023. URL: https://doi.org/10.1016/j.ymgme.2023.107686, doi:10.1016/j.ymgme.2023.107686. This article has 5 citations and is from a peer-reviewed journal.

  8. (fenton2023acaenorhabditiselegans pages 15-16): Adam R. Fenton, Haley N. Janowitz, Latisha P. Franklin, Riley G. Young, Corinna A. Moro, Michael V. DeGennaro, Melanie R. McReynolds, Wenqing Wang, and Wendy Hanna-Rose. A caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology. Molecular Genetics and Metabolism, 140:107686, Nov 2023. URL: https://doi.org/10.1016/j.ymgme.2023.107686, doi:10.1016/j.ymgme.2023.107686. This article has 5 citations and is from a peer-reviewed journal.

  9. (camici2023inbornerrorsof pages 9-11): Marcella Camici, Mercedes Garcia-Gil, Simone Allegrini, Rossana Pesi, Giulia Bernardini, Vanna Micheli, and Maria Grazia Tozzi. Inborn errors of purine salvage and catabolism. Metabolites, 13:787, Jun 2023. URL: https://doi.org/10.3390/metabo13070787, doi:10.3390/metabo13070787. This article has 22 citations.

  10. (cutillo2024electroclinicalfeaturesand pages 2-4): Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, and Pierangelo Veggiotti. Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: long‐term follow‐up of seven patients from four families and appraisal of the literature. Epilepsia Open, 9:106-121, Nov 2024. URL: https://doi.org/10.1002/epi4.12837, doi:10.1002/epi4.12837. This article has 5 citations and is from a peer-reviewed journal.

  11. (donti2016diagnosisofadenylosuccinate pages 3-4): Taraka R. Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa T. Emrick, and Sarah H. Elsea. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Molecular Genetics and Metabolism Reports, 8:61-66, Sep 2016. URL: https://doi.org/10.1016/j.ymgmr.2016.07.007, doi:10.1016/j.ymgmr.2016.07.007. This article has 66 citations.

  12. (cutillo2024electroclinicalfeaturesand pages 14-15): Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, and Pierangelo Veggiotti. Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: long‐term follow‐up of seven patients from four families and appraisal of the literature. Epilepsia Open, 9:106-121, Nov 2024. URL: https://doi.org/10.1002/epi4.12837, doi:10.1002/epi4.12837. This article has 5 citations and is from a peer-reviewed journal.

  13. (shi2025thediagnosisand pages 1-3): Yuqing Shi, Zihan Wei, Yan Feng, Ya-Jing Gan, Guo-Yan Li, and Yanchun Deng. The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy. Acta Epileptologica, Apr 2025. URL: https://doi.org/10.1186/s42494-025-00201-x, doi:10.1186/s42494-025-00201-x. This article has 3 citations.

  14. (jurecka2015adenylosuccinatelyasedeficiency pages 4-6): Agnieszka Jurecka, Marie Zikanova, Stanislav Kmoch, and Anna Tylki‐Szymańska. Adenylosuccinate lyase deficiency. Journal of Inherited Metabolic Disease, 38:231-242, Aug 2015. URL: https://doi.org/10.1007/s10545-014-9755-y, doi:10.1007/s10545-014-9755-y. This article has 158 citations and is from a peer-reviewed journal.

  15. (moro2023adenylosuccinatelyasedeficiency pages 9-11): Corinna A. Moro, Sabrina A. Sony, Latisha P. Franklin, Shirley Dong, Mia M. Peifer, Kathryn E. Wittig, and Wendy Hanna-Rose. Adenylosuccinate lyase deficiency affects neurobehavior via perturbations to tyramine signaling in caenorhabditis elegans. PLOS Genetics, 19:e1010974, Sep 2023. URL: https://doi.org/10.1371/journal.pgen.1010974, doi:10.1371/journal.pgen.1010974. This article has 8 citations and is from a domain leading peer-reviewed journal.

  16. (jurecka2015adenylosuccinatelyasedeficiency pages 8-9): Agnieszka Jurecka, Marie Zikanova, Stanislav Kmoch, and Anna Tylki‐Szymańska. Adenylosuccinate lyase deficiency. Journal of Inherited Metabolic Disease, 38:231-242, Aug 2015. URL: https://doi.org/10.1007/s10545-014-9755-y, doi:10.1007/s10545-014-9755-y. This article has 158 citations and is from a peer-reviewed journal.

  17. (moro2023adenylosuccinatelyasedeficiency pages 11-13): Corinna A. Moro, Sabrina A. Sony, Latisha P. Franklin, Shirley Dong, Mia M. Peifer, Kathryn E. Wittig, and Wendy Hanna-Rose. Adenylosuccinate lyase deficiency affects neurobehavior via perturbations to tyramine signaling in caenorhabditis elegans. PLOS Genetics, 19:e1010974, Sep 2023. URL: https://doi.org/10.1371/journal.pgen.1010974, doi:10.1371/journal.pgen.1010974. This article has 8 citations and is from a domain leading peer-reviewed journal.

  18. (fenton2023acaenorhabditiselegans pages 8-9): Adam R. Fenton, Haley N. Janowitz, Latisha P. Franklin, Riley G. Young, Corinna A. Moro, Michael V. DeGennaro, Melanie R. McReynolds, Wenqing Wang, and Wendy Hanna-Rose. A caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology. Molecular Genetics and Metabolism, 140:107686, Nov 2023. URL: https://doi.org/10.1016/j.ymgme.2023.107686, doi:10.1016/j.ymgme.2023.107686. This article has 5 citations and is from a peer-reviewed journal.

  19. (macchiaiolo2017amildform pages 7-7): Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, and Andrea Bartuli. A mild form of adenylosuccinate lyase deficiency in absence of typical brain mri features diagnosed by whole exome sequencing. Italian Journal of Pediatrics, Aug 2017. URL: https://doi.org/10.1186/s13052-017-0383-7, doi:10.1186/s13052-017-0383-7. This article has 16 citations and is from a peer-reviewed journal.