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Menkes Disease

Menkes Disease (ATP7A-related copper transport disorder) — Comprehensive Disease Characteristics Report

2026-04-25
Falcon MONDO:0010651 Model: Edison Scientific Literature 33 citations

Menkes Disease (ATP7A-related copper transport disorder) — Comprehensive Disease Characteristics Report

1. Disease information

Overview (current understanding)

Menkes disease (MD) is a rare, typically male-infantile, X-linked disorder of systemic copper deficiency caused by pathogenic variants in ATP7A, which encodes a copper-transporting P-type ATPase required for copper distribution to the secretory pathway and copper-dependent enzymes. The disorder is characterized by progressive neurodegeneration, seizures, hypotonia/developmental regression, abnormal hair (classically hypopigmented/brittle/kinky), and connective-tissue/vascular and skeletal abnormalities. (wiecek2024disordersofcopper pages 7-8, fujisawa2022earlyclinicalsigns pages 1-2, vairo2019asystematicreview pages 1-6)

Key identifiers

  • OMIM: Menkes disease #309400 (wiecek2024disordersofcopper pages 7-8, feyter2023atp7a‐relatedcoppertransport pages 14-18)
  • OMIM (allelic disorders within ATP7A spectrum): Occipital horn syndrome (OHS) #304150; X-linked distal spinal muscular atrophy type 3 (SMAX3) #300489 (feyter2023atp7a‐relatedcoppertransport pages 14-18)
  • MeSH / ICD-10 / ICD-11 / Orphanet / MONDO: Not retrievable from the available full-text evidence in this run; should be added from OMIM/Orphanet/MeSH/MONDO registries directly (not primary literature).

Synonyms / alternative names

Reported synonyms include Kinky Hair Disease, Trichopoliodystrophy, and Steely Disease. (wiecek2024disordersofcopper pages 7-8)

Evidence source type

This report is derived from aggregated disease-level resources and primary/secondary literature (systematic reviews, guidelines, case series/case reports) rather than EHR-derived cohorts. (feyter2023atp7a‐relatedcoppertransport pages 18-21, vairo2019asystematicreview pages 1-6, zhu2024brainandthe pages 1-2)

2. Etiology

Disease causal factors

Risk factors

  • Primary risk factor: Inheritance of a pathogenic ATP7A variant (X-linked). Most affected individuals are male; female presentations are unusual but can occur in special genetic contexts (e.g., unfavorable X-inactivation). (wiecek2024disordersofcopper pages 10-11)

Protective factors

No validated genetic or environmental protective factors were identified in the retrieved evidence.

Gene–environment interactions

Not established for Menkes disease in the retrieved evidence; the phenotype is primarily determined by ATP7A functional residual activity and timing of therapeutic copper delivery. (tumer2017a37‐year‐oldmenkes pages 1-4, fujisawa2022earlyclinicalsigns pages 1-2)

3. Phenotypes (clinical spectrum)

ATP7A-related clinical subtypes (2023 systematic re-definition)

A systematic review curated 162 molecularly confirmed individuals and classified them as: classical Menkes disease (CMD) 62.3%, atypical/attenuated Menkes disease (AMD) 11.1%, OHS 22.6%, and SMAX3 3.7%. (feyter2023atp7a‐relatedcoppertransport pages 18-21)

Key differentiators: * CMD: seizures as initial symptom or seizures before 3 months are highly suggestive; severe neurodevelopmental course and early mortality. (feyter2023atp7a‐relatedcoppertransport pages 24-27) * AMD: ataxia is relatively specific; lower early-demise risk than CMD. (feyter2023atp7a‐relatedcoppertransport pages 24-27) * OHS: occipital horns are pathognomonic; radial head dislocations, herniations, and dental abnormalities support the diagnosis; connective tissue/urologic issues common. (feyter2023atp7a‐relatedcoppertransport pages 24-27) * SMAX3: late-onset distal motor neuropathy without major neuromotor delay; defined by neurophysiology (EMG). (feyter2023atp7a‐relatedcoppertransport pages 24-27)

Common phenotypes (type → characteristics → suggested HPO)

Below are representative phenotypes strongly supported in the retrieved clinical literature; frequencies are variably reported.

  • Neurodevelopmental delay/regression (symptom/sign): typical onset in early infancy; often progressive. Suggested HPO: Global developmental delay (HP:0001263), Developmental regression (HP:0002376). (vairo2019asystematicreview pages 1-6)
  • Seizures/epileptic encephalopathy (symptom/sign): often begin around 2–3 months; may be severe/intractable in classic disease. Suggested HPO: Seizures (HP:0001250), Infantile spasms (HP:0012469). (wiecek2024disordersofcopper pages 8-10, fujisawa2022earlyclinicalsigns pages 1-2)
  • Hypotonia (clinical sign): early and common. Suggested HPO: Hypotonia (HP:0001252). (vairo2019asystematicreview pages 1-6, feyter2023atp7a‐relatedcoppertransport pages 24-27)
  • Hair abnormalities (physical manifestation): hypopigmented/brittle/kinky hair in CMD; coarse hair more typical in OHS. Suggested HPO: Pili torti (HP:0003777), Abnormal hair (HP:0001595), Hypopigmented hair (HP:0005558). (feyter2023atp7a‐relatedcoppertransport pages 24-27)
  • Connective tissue/vascular involvement: vascular tortuosity and bladder diverticula can occur across subtypes and have high complication risk. Suggested HPO: Arterial tortuosity (HP:0005116), Bladder diverticulum (HP:0000017). (feyter2023atp7a‐relatedcoppertransport pages 1-5, feyter2023atp7a‐relatedcoppertransport pages 24-27)
  • Skeletal abnormalities: wormian bones, metaphyseal changes; OHS with occipital horns/exostoses. Suggested HPO: Wormian bones (HP:0002645), Metaphyseal widening (HP:0005014), Exostoses (HP:0100777), Occipital horn (HP:0002517). (zhu2024brainandthe pages 1-2, feyter2023atp7a‐relatedcoppertransport pages 24-27)

Quality of life impact (recent data)

A 2023 cross-sectional caregiver study (n=16) using PedsQL 4.0 and the PedsQL Family Impact Module reported very low child HRQOL: overall mean 29.14 (SD 14.73) on a 0–100 scale, with physical functioning particularly low (10.55, SD 10.26). Family impact was substantial, with mean overall family-impact rating 44.16 (SD 17.40) and low scores in worry and daily activities domains. (rozensztrauch2023healthrelatedqualityof pages 1-2, rozensztrauch2023healthrelatedqualityof pages 7-8, rozensztrauch2023healthrelatedqualityof pages 4-5)

4. Genetic / molecular information

Causal gene

Pathogenic variant classes and functional consequences

  • Menkes disease is driven largely by loss-of-function or severely hypomorphic ATP7A variants. Truncating variants are enriched in CMD, while splice-site/intronic variants (allowing low residual expression) are enriched in OHS; SMAX3 is linked to missense variants in/near transmembrane helices essential for copper transport. (feyter2023atp7a‐relatedcoppertransport pages 24-27)

Modifier genes / epigenetics / chromosomal abnormalities

No validated modifier genes or disease-specific epigenetic signatures were identified in the retrieved evidence.

5. Environmental information

Menkes disease is primarily genetic. No environmental/lifestyle/infectious causal factors were identified in the retrieved evidence.

6. Mechanism / pathophysiology

Core causal chain (systemic copper deficiency → enzyme dysfunction → multisystem phenotype)

ATP7A dysfunction impairs copper export and distribution, leading to systemic copper deficiency, low brain copper, and reduced activity of multiple copper-dependent enzymes (including dopamine β-hydroxylase, lysyl oxidase, and cytochrome c oxidase), which in turn drives neurological impairment, connective tissue fragility, and vascular/skeletal manifestations. (wiecek2024disordersofcopper pages 7-8, fujisawa2022earlyclinicalsigns pages 1-2)

Upstream vs downstream mechanisms

  • Upstream: impaired ATP7A-dependent copper transport and delivery to the secretory pathway (Golgi incorporation into cuproenzymes). (fujisawa2022earlyclinicalsigns pages 1-2)
  • Downstream: impaired catecholamine biosynthesis (via dopamine β-hydroxylase), defective connective tissue crosslinking (lysyl oxidase), mitochondrial respiratory defects (cytochrome c oxidase), contributing to neurodegeneration and systemic tissue vulnerability. (wiecek2024disordersofcopper pages 7-8)

Suggested ontology terms

  • GO Biological Process (examples): copper ion transport; cellular copper ion homeostasis; catecholamine biosynthetic process; mitochondrial electron transport chain; extracellular matrix organization.
  • Cell types (CL examples): neurons (incl. noradrenergic neurons), oligodendrocytes (myelination context), enterocytes (intestinal copper handling), vascular smooth muscle cells/fibroblasts (connective tissue phenotype).

7. Anatomical structures affected

Organ systems (supported)

Imaging-supported anatomical localization (UBERON suggestions)

8. Temporal development (onset and progression)

9. Inheritance and population

Inheritance

Epidemiology (recently cited estimates)

Reported incidence/prevalence varies by geography: * Europe incidence estimate: ~1 in 300,000 live births. (vairo2019asystematicreview pages 1-6) * Australia: reports as high as 1 in 40,000. (vairo2019asystematicreview pages 1-6) * Japan incidence: 1 in 360,000 (reported in a 2022 review of early signs/treatment). (fujisawa2022earlyclinicalsigns pages 1-2) * Prevalence estimate: ~1:140,000 males (review source). (wiecek2024disordersofcopper pages 7-8)

10. Diagnostics

Laboratory tests and biomarkers

Direct abstract-quote style statements present in the evidence include: * “analysis of plasma catecholamine levels is accurate for neonatal diagnosis of Menkes disease” (systematic review/guideline). (vairo2019asystematicreview pages 1-6) * “serum copper and ceruloplasmin levels are not reliable diagnostic biomarkers due to the low concentrations in healthy newborns” (case report/review). (zhu2024brainandthe pages 1-2)

Imaging

A 2024 BMC Pediatrics case report/literature review emphasizes characteristic imaging patterns: * Brain MRI/MRA: intracranial vascular tortuosity, cerebral/cerebellar atrophy, delayed myelination/white-matter changes, basal ganglia abnormalities. (zhu2024brainandthe pages 1-2, zhu2024brainandthe media f56ccfea) * Skeletal radiographs: wormian bones, rib flaring, metaphyseal spurring, periosteal reactions. (zhu2024brainandthe pages 1-2, zhu2024brainandthe media f2ce26df)

Genetic testing

Molecular confirmation by identifying a pathogenic ATP7A variant is central; ACMG-based variant classification is used in clinical reporting. (zhu2024brainandthe pages 1-2)

Prenatal diagnosis and counseling

Prenatal genetic diagnosis is feasible in families with a prior affected child; counseling should consider possibilities such as germline mosaicism when maternal carrier status is not detected. (vairo2019asystematicreview pages 1-6, vairo2019asystematicreview pages 18-22)

11. Outcome / prognosis

Natural history (untreated)

Classic Menkes disease has a poor prognosis, often leading to death in early childhood (commonly cited as before ~3 years). (fujisawa2022earlyclinicalsigns pages 1-2, vairo2019asystematicreview pages 1-6)

Subtype-stratified mortality (systematic review)

In the 162-person systematic review: * CMD mortality 40.6%, mean age at death 2.3 years. * OHS mortality 13.5%, mean age at death 25.3 years. Infectious disease was the most common cause of death in CMD. (feyter2023atp7a‐relatedcoppertransport pages 18-21)

12. Treatment

Standard disease-modifying therapy: parenteral copper histidine / copper histidinate

Evidence syntheses and clinical programs consistently identify parenteral copper-histidine / copper histidinate as the main disease-modifying therapy, with benefit strongest when started in the neonatal/presymptomatic period.

  • Guideline conclusion (systematic review): “treatment with copper-histidine is effective to increase survival and reduce neurologic burden of the disease if initiated in the neonatal period.” (vairo2019asystematicreview pages 1-6)
  • Quantitative survival comparisons summarized in the guideline review include improved survival with neonatal initiation (e.g., 62.5% vs 8.3–37.5%, and 92% vs 13% in small cohorts/historical comparisons) and low NNTs to prevent a death (reported as 2.6 and 1.27 across datasets). (vairo2019asystematicreview pages 10-14)
  • Treatment response is heterogeneous and may depend on residual ATP7A function; a long-surviving treated individual reached 37 years, associated with early and sustained parenteral copper and a missense variant consistent with residual transport function, although long-term renal toxicity occurred. (tumer2017a37‐year‐oldmenkes pages 1-4)

CHEBI suggestion: copper(II) (CHEBI:29036); copper histidinate / copper bis(histidinate) (map to appropriate CHEBI entry in downstream curation).

MAXO suggestions: copper supplementation therapy; subcutaneous drug administration; parenteral trace-element replacement.

Supportive care (real-world implementation)

Supportive management includes seizure control, nutritional support/feeding tube placement, infection prevention, and management of urologic complications such as bladder diverticula. (zhu2024brainandthe pages 4-6)

Emerging/experimental therapies (latest research emphasis)

  • CNS-directed AAV gene therapy (preclinical): In a severe mouse model, CSF-delivered rAAV9 encoding a compact ATP7A (rsATP7A) combined with subcutaneous copper histidinate produced 53.3% long-term (≥300-day) survival versus 0% with either treatment alone, with improvements in brain copper, neurochemistry, and neurobehavior. (haddad2018cerebrospinalfluiddirectedraav9rsatp7a pages 1-2)

13. Prevention

  • Primary prevention: not applicable in a genetic disorder, aside from reproductive options.
  • Secondary prevention (early detection): the key preventive strategy for morbidity/mortality is early/presymptomatic diagnosis enabling neonatal copper therapy. Plasma catecholamine ratios are described as accurate for neonatal diagnosis in guideline synthesis. (vairo2019asystematicreview pages 6-10, vairo2019asystematicreview pages 1-6)
  • Genetic counseling / reproductive prevention: prenatal genetic diagnosis is feasible in families with a known case; counseling should account for potential germline mosaicism. (vairo2019asystematicreview pages 18-22)

14. Other species / natural disease

The retrieved evidence does not provide natural (non-laboratory) Menkes-like disease in other species.

15. Model organisms

A severe Menkes mouse model has been used to test combined copper replacement and CNS gene therapy strategies, demonstrating major survival and neuropathology improvements with combined CSF rAAV9-rsATP7A plus copper histidinate. (haddad2018cerebrospinalfluiddirectedraav9rsatp7a pages 1-2)

Current applications and real-world implementations (ClinicalTrials.gov)

  • NCT00001262 (NIH; started 1990; completed 2013): “Early Copper Histidine Therapy in Menkes Disease,” Phase 1/2 single-group, n=60, presymptomatic newborns; primary outcome developmental milestones at 36 months or death. (NCT00001262 chunk 1)
  • NCT00811785 (Cyprium; completed 2020): Phase 3, n=93, daily subcutaneous copper histidinate up to 3 years; survival comparisons for classic Menkes and neurologic outcomes for related phenotypes. (NCT00811785 chunk 1)
  • NCT04074512 (Sentynl; expanded access; “approved for marketing” listing): provides subcutaneous copper histidinate (CUTX-101) for US pediatric patients <6 years, including newly diagnosed individuals under defined biochemical/genetic criteria. (NCT04074512 chunk 1)

Expert opinion / analysis (authoritative synthesis)

  • A 2019 evidence-based guideline concludes copper-histidine can be disease-modifying only when initiated in the neonatal period, and emphasizes the inadequacy of relying on newborn serum copper/ceruloplasmin for early diagnosis, motivating use of neonatal catecholamine testing and prenatal diagnosis in known families. (vairo2019asystematicreview pages 1-6)
  • A 2023 systematic review highlights that counseling is challenging due to overlap among ATP7A phenotypes, limited predictive biomarkers, and weak genotype–phenotype correlation; it proposes practical subtype criteria and reports substantial differences in mortality between CMD and OHS. (feyter2023atp7a‐relatedcoppertransport pages 18-21, feyter2023atp7a‐relatedcoppertransport pages 24-27)

Reference summary table

The following table consolidates identifiers, subtype definitions, diagnostic biomarkers, epidemiology, and prognosis.

Table (click to expand)
Domain Key data Quantitative details DOI / URL / Year Supporting citations
Disease / identifiers Menkes disease; OMIM #309400; ATP7A-related copper transport disorder spectrum includes classical Menkes disease (CMD), atypical Menkes disease (AMD), occipital horn syndrome (OHS; OMIM #304150), and X-linked distal spinal muscular atrophy type 3 / SMAX3 (OMIM #300489) ATP7A spans ~140 kb with 23 exons; review cohort included 162 molecularly confirmed individuals De Feyter et al., J Inherit Metab Dis 2023; DOI: https://doi.org/10.1002/jimd.12590 (feyter2023atp7a‐relatedcoppertransport pages 1-5, feyter2023atp7a‐relatedcoppertransport pages 18-21, feyter2023atp7a‐relatedcoppertransport pages 14-18)
Synonyms / alternative names Kinky Hair Disease, Trichopoliodystrophy, Steely Disease; OHS also described as X-linked cutis laxa variant Primarily affects male infants; female cases rare but reported due to unusual X-inactivation or chromosomal mechanisms Więcek & Paprocka 2024: https://doi.org/10.3390/metabo14010038; Matsumoto et al. 2024: https://doi.org/10.1038/s41598-023-50668-2 (wiecek2024disordersofcopper pages 7-8, wiecek2024disordersofcopper pages 10-11, wiecek2024disordersofcopper pages 8-10)
Inheritance / causal gene X-linked recessive disorder caused by pathogenic variants in ATP7A (ATPase copper transporting alpha; Xq13.3), encoding a copper-transporting P-type ATPase >350 disease-causing variants reported; about one-third de novo Więcek & Paprocka 2024: https://doi.org/10.3390/metabo14010038; Fujisawa et al. 2022: https://doi.org/10.1016/j.ymgmr.2022.100849 (wiecek2024disordersofcopper pages 7-8, wiecek2024disordersofcopper pages 10-11, fujisawa2022earlyclinicalsigns pages 1-2)
Major subtypes CMD: early-onset neurodegeneration with early seizures, severe course. AMD: attenuated overlap phenotype, ataxia is a key discriminator, better survival. OHS: milder connective-tissue-predominant phenotype with occipital horns, radial head dislocations, hernias, bladder diverticula, dental abnormalities. SMAX3: late-onset distal motor neuropathy without intellectual disability or occipital horns Distribution in 162-patient review: CMD 101/162 (62.3%); AMD 18/162 (11.1%); OHS 37/162 (22.6%); SMAX3 6/162 (3.7%) De Feyter et al. 2023: https://doi.org/10.1002/jimd.12590 (feyter2023atp7a‐relatedcoppertransport pages 1-5, feyter2023atp7a‐relatedcoppertransport pages 18-21, feyter2023atp7a‐relatedcoppertransport pages 14-18, feyter2023atp7a‐relatedcoppertransport pages 24-27)
Hallmark biochemical diagnosis Low serum copper and ceruloplasmin are classic findings, but both are unreliable in healthy newborns/early infancy; ceruloplasmin may be more sensitive than serum copper for severity discrimination among ATP7A phenotypes Measure serum copper / ceruloplasmin after the 3rd week of life in one review; conventional blood copper / ceruloplasmin become more diagnostically useful only after ~3 months in guideline review Vairo et al. 2019: https://doi.org/10.1016/j.ymgme.2018.12.005; Więcek & Paprocka 2024: https://doi.org/10.3390/metabo14010038; Zhu et al. 2024: https://doi.org/10.1186/s12887-024-04885-x (wiecek2024disordersofcopper pages 10-11, vairo2019asystematicreview pages 6-10, vairo2019asystematicreview pages 1-6, feyter2023atp7a‐relatedcoppertransport pages 27-31, zhu2024brainandthe pages 1-2)
Plasma catecholamine biomarkers Neonatal plasma catecholamines are highlighted as accurate early biomarkers because dopamine-β-hydroxylase is copper-dependent Diagnostic thresholds reported: dopamine / norepinephrine ratio >0.2 and dihydroxyphenylacetic acid / dihydroxyphenylglycol ratio >5; reported 100% sensitivity and 100% specificity in small neonatal cohorts summarized by guideline Vairo et al. 2019: https://doi.org/10.1016/j.ymgme.2018.12.005 (vairo2019asystematicreview pages 6-10, vairo2019asystematicreview pages 18-22)
Epidemiology Rare disorder with region-specific estimates Europe: incidence about 1 in 300,000 live births; Australia: reports up to 1 in 40,000; Japan: incidence 1 in 360,000; prevalence estimate in one review about 1:140,000 males Vairo et al. 2019: https://doi.org/10.1016/j.ymgme.2018.12.005; Fujisawa et al. 2022: https://doi.org/10.1016/j.ymgmr.2022.100849; Więcek & Paprocka 2024: https://doi.org/10.3390/metabo14010038 (wiecek2024disordersofcopper pages 7-8, fujisawa2022earlyclinicalsigns pages 1-2, vairo2019asystematicreview pages 1-6)
Typical onset / hallmark clinical picture Onset in early infancy with abnormal hair, hypotonia, developmental regression, seizures, connective-tissue and vascular abnormalities, feeding difficulties, autonomic dysfunction; imaging often shows cerebral/cerebellar atrophy and tortuous intracranial vessels First sign can be sparse/lustreless hair at 1–2 months; neurological disturbances often begin at 2–3 months; typical diagnosis at 3–6 months; mean age at diagnosis in one cohort 8.7 months Więcek & Paprocka 2024: https://doi.org/10.3390/metabo14010038; Fujisawa et al. 2022: https://doi.org/10.1016/j.ymgmr.2022.100849; Zhu et al. 2024: https://doi.org/10.1186/s12887-024-04885-x (wiecek2024disordersofcopper pages 8-10, fujisawa2022earlyclinicalsigns pages 1-2, zhu2024brainandthe pages 1-2)
Prognosis / mortality Natural history is progressive and often fatal in classic disease; respiratory and gastrointestinal complications are common causes of death; OHS and AMD have substantially better survival than CMD Without treatment, most classic cases die by <3 years (some reviews state before 4 years); in 162-patient review CMD mortality 40.6%, mean age at death 2.3 years; OHS mortality 13.5%, mean age at death 25.3 years; cerebrovascular accidents reported in up to 10% De Feyter et al. 2023: https://doi.org/10.1002/jimd.12590; Vairo et al. 2019: https://doi.org/10.1016/j.ymgme.2018.12.005; Więcek & Paprocka 2024: https://doi.org/10.3390/metabo14010038 (feyter2023atp7a‐relatedcoppertransport pages 18-21, wiecek2024disordersofcopper pages 10-11, wiecek2024disordersofcopper pages 8-10, vairo2019asystematicreview pages 1-6, feyter2023atp7a‐relatedcoppertransport pages 24-27)
Treatment-linked prognosis modifier Early parenteral copper-histidine / copper histidinate is the main disease-modifying therapy; best outcomes occur with neonatal / presymptomatic initiation, especially when residual ATP7A activity remains Early-treated survival in summarized cohorts: 62.5% vs 8.3–37.5% and 92% vs 13% versus later/historical comparators; one long-surviving treated patient reached 37 years; combined mouse therapy rAAV9-rsATP7A + CuHis achieved 53.3% long-term survival vs 0% with either alone Vairo et al. 2019: https://doi.org/10.1016/j.ymgme.2018.12.005; Tümer et al. 2017: https://doi.org/10.1111/cge.13083; Haddad et al. 2018: https://doi.org/10.1016/j.omtm.2018.07.002 (haddad2018cerebrospinalfluiddirectedraav9rsatp7a pages 1-2, tumer2017a37‐year‐oldmenkes pages 1-4, vairo2019asystematicreview pages 1-6, fujisawa2022earlyclinicalsigns pages 1-2, vairo2019asystematicreview pages 10-14)

Table: This table compiles core disease metadata, subtype distinctions, diagnostic biomarkers, epidemiology, and prognosis for Menkes disease from the gathered evidence. It is designed as a compact reference for rapid knowledge-base population with direct citation support.

Notes on evidence gaps

  • ICD-10/ICD-11, MeSH, Orphanet, and MONDO identifiers were not extractable from the retrieved full-text set in this run and should be programmatically added from their respective terminologies/databases.
  • Treatment evidence in humans remains limited by small cohorts and historical comparisons; heterogeneity by residual ATP7A function is strongly suggested by long-term survivor case evidence. (tumer2017a37‐year‐oldmenkes pages 1-4, vairo2019asystematicreview pages 10-14)

References

  1. (wiecek2024disordersofcopper pages 7-8): Sabina Więcek and Justyna Paprocka. Disorders of copper metabolism in children—a problem too rarely recognized. Metabolites, 14:38, Jan 2024. URL: https://doi.org/10.3390/metabo14010038, doi:10.3390/metabo14010038. This article has 18 citations.

  2. (fujisawa2022earlyclinicalsigns pages 1-2): Chie Fujisawa, Hiroko Kodama, Yasuhiro Sato, Masakazu Mimaki, Mariko Yagi, Hiroyuki Awano, Muneaki Matsuo, Haruo Shintaku, Sayaka Yoshida, Masaki Takayanagi, Mitsuru Kubota, Akihito Takahashi, and Yoshikiyo Akasaka. Early clinical signs and treatment of menkes disease. Molecular Genetics and Metabolism Reports, 31:100849, Jun 2022. URL: https://doi.org/10.1016/j.ymgmr.2022.100849, doi:10.1016/j.ymgmr.2022.100849. This article has 48 citations.

  3. (vairo2019asystematicreview pages 1-6): Filippo Pinto e Vairo, Bruna Cristine Chwal, Silvana Perini, Maria Angélica Pires Ferreira, Ana Carolina de Freitas Lopes, and Jonas Alex Morales Saute. A systematic review and evidence-based guideline for diagnosis and treatment of menkes disease. Molecular genetics and metabolism, 126 1:6-13, Jan 2019. URL: https://doi.org/10.1016/j.ymgme.2018.12.005, doi:10.1016/j.ymgme.2018.12.005. This article has 111 citations and is from a peer-reviewed journal.

  4. (feyter2023atp7a‐relatedcoppertransport pages 14-18): S. De Feyter, A. Beyens, and B. Callewaert. atp7a‐related copper transport disorders: a systematic review and definition of the clinical subtypes. Journal of Inherited Metabolic Disease, 46:163-173, Feb 2023. URL: https://doi.org/10.1002/jimd.12590, doi:10.1002/jimd.12590. This article has 27 citations and is from a peer-reviewed journal.

  5. (feyter2023atp7a‐relatedcoppertransport pages 18-21): S. De Feyter, A. Beyens, and B. Callewaert. atp7a‐related copper transport disorders: a systematic review and definition of the clinical subtypes. Journal of Inherited Metabolic Disease, 46:163-173, Feb 2023. URL: https://doi.org/10.1002/jimd.12590, doi:10.1002/jimd.12590. This article has 27 citations and is from a peer-reviewed journal.

  6. (zhu2024brainandthe pages 1-2): Juncheng Zhu, Yi Liao, Xuesheng Li, Fenglin Jia, Xinmao Ma, and Haibo Qu. Brain and the whole-body bone imaging appearances in menkes disease: a case report and literature review. BMC Pediatrics, Jun 2024. URL: https://doi.org/10.1186/s12887-024-04885-x, doi:10.1186/s12887-024-04885-x. This article has 4 citations and is from a peer-reviewed journal.

  7. (wiecek2024disordersofcopper pages 10-11): Sabina Więcek and Justyna Paprocka. Disorders of copper metabolism in children—a problem too rarely recognized. Metabolites, 14:38, Jan 2024. URL: https://doi.org/10.3390/metabo14010038, doi:10.3390/metabo14010038. This article has 18 citations.

  8. (tumer2017a37‐year‐oldmenkes pages 1-4): Zeynep Tümer, M. Petris, S. Zhu, J. Mercer, J. Bukrinski, S. Bilz, Kurt Baerlocher, N. Horn, and Lisbeth Birk Møller. A 37‐year‐old menkes disease patient—residual atp7a activity and early copper administration as key factors in beneficial treatment. Clinical Genetics, 92:548-553, Nov 2017. URL: https://doi.org/10.1111/cge.13083, doi:10.1111/cge.13083. This article has 10 citations and is from a peer-reviewed journal.

  9. (feyter2023atp7a‐relatedcoppertransport pages 24-27): S. De Feyter, A. Beyens, and B. Callewaert. atp7a‐related copper transport disorders: a systematic review and definition of the clinical subtypes. Journal of Inherited Metabolic Disease, 46:163-173, Feb 2023. URL: https://doi.org/10.1002/jimd.12590, doi:10.1002/jimd.12590. This article has 27 citations and is from a peer-reviewed journal.

  10. (wiecek2024disordersofcopper pages 8-10): Sabina Więcek and Justyna Paprocka. Disorders of copper metabolism in children—a problem too rarely recognized. Metabolites, 14:38, Jan 2024. URL: https://doi.org/10.3390/metabo14010038, doi:10.3390/metabo14010038. This article has 18 citations.

  11. (feyter2023atp7a‐relatedcoppertransport pages 1-5): S. De Feyter, A. Beyens, and B. Callewaert. atp7a‐related copper transport disorders: a systematic review and definition of the clinical subtypes. Journal of Inherited Metabolic Disease, 46:163-173, Feb 2023. URL: https://doi.org/10.1002/jimd.12590, doi:10.1002/jimd.12590. This article has 27 citations and is from a peer-reviewed journal.

  12. (rozensztrauch2023healthrelatedqualityof pages 1-2): Anna Rozensztrauch, Izabela Dzien, and Robert Śmigiel. Health-related quality of life and family functioning of primary caregivers of children with menkes disease. Journal of Clinical Medicine, 12:1769, Feb 2023. URL: https://doi.org/10.3390/jcm12051769, doi:10.3390/jcm12051769. This article has 8 citations.

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  15. (vairo2019asystematicreview pages 6-10): Filippo Pinto e Vairo, Bruna Cristine Chwal, Silvana Perini, Maria Angélica Pires Ferreira, Ana Carolina de Freitas Lopes, and Jonas Alex Morales Saute. A systematic review and evidence-based guideline for diagnosis and treatment of menkes disease. Molecular genetics and metabolism, 126 1:6-13, Jan 2019. URL: https://doi.org/10.1016/j.ymgme.2018.12.005, doi:10.1016/j.ymgme.2018.12.005. This article has 111 citations and is from a peer-reviewed journal.

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  17. (zhu2024brainandthe media f56ccfea): Juncheng Zhu, Yi Liao, Xuesheng Li, Fenglin Jia, Xinmao Ma, and Haibo Qu. Brain and the whole-body bone imaging appearances in menkes disease: a case report and literature review. BMC Pediatrics, Jun 2024. URL: https://doi.org/10.1186/s12887-024-04885-x, doi:10.1186/s12887-024-04885-x. This article has 4 citations and is from a peer-reviewed journal.

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  20. (zhu2024brainandthe pages 4-6): Juncheng Zhu, Yi Liao, Xuesheng Li, Fenglin Jia, Xinmao Ma, and Haibo Qu. Brain and the whole-body bone imaging appearances in menkes disease: a case report and literature review. BMC Pediatrics, Jun 2024. URL: https://doi.org/10.1186/s12887-024-04885-x, doi:10.1186/s12887-024-04885-x. This article has 4 citations and is from a peer-reviewed journal.

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