IEMbase 0549: ADK-related adenosine kinase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 549 |
| Nosology | 1.5.05.01 |
| Gene | ADK |
| External IDs | OMIM:614300; ORPHA:289290 |
| Generated mapping | MAPPED; Adenosine_Kinase_Deficiency.yaml |
| Candidate DisMech targets | Adenosine_Kinase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents ADK-related adenosine kinase deficiency, also labeled hypermethioninemia due to adenosine kinase deficiency and ADKD. The record is autosomal recessive, and treatability is unknown. No treatment rows are listed.
The biochemical rows emphasize increased plasma methionine, increased urinary adenosine, increased plasma S-adenosylhomocysteine and S-adenosylmethionine, normal-to-increased total homocysteine, increased ALAT, normal-to-increased creatine kinase and prothrombin time, neonatal conjugated bilirubin, low-normal glucose, and normal-to-increased urinary uric acid. Characteristic clinical rows are developmental delay, frontal bossing, and hypotonia. Additional rows include cardiac malformations, intrahepatic cholestasis, epilepsy, failure to thrive, sensorineural hearing loss, hypoglycemia, liver dysfunction, liver steatosis, macrocephaly, progressive muscle weakness, short stature, slender hands and feet, and thin corpus callosum.
DisMech phenotype coverage
Adenosine_Kinase_Deficiency.yaml is the correct target. The local entry
models biallelic ADK loss, impaired adenosine phosphorylation to AMP, disrupted
adenosine salvage, methionine-cycle disturbance, hypermethioninemia, hepatic
disease, developmental delay, epilepsy, hypotonia, dysmorphic features,
mitochondrial respiratory-chain abnormalities, cerebrovascular abnormalities,
and cardiac findings.
Local biomarker coverage includes elevated plasma methionine and elevated S-adenosylhomocysteine as diagnostic signals, with ADK sequencing for confirmation.
Concordance and completeness
Judgement: correct high-concordance mapping to
Adenosine_Kinase_Deficiency.yaml.
IEMbase and DisMech agree on ADK identity, recessive inheritance, hypermethioninemia, adenosine/methionine-cycle disruption, liver disease, developmental delay, epilepsy, hypotonia, dysmorphic features, cardiac involvement, and diagnostic molecular confirmation. DisMech is stronger for the causal chain from ADK loss to adenosine salvage and methionine-cycle perturbation.
IEMbase adds granular review prompts for urinary adenosine, SAM/SAH direction, ALAT, prothrombin time, creatine kinase, glucose, uric acid, liver steatosis, frontal bossing, slender hands and feet, thin corpus callosum, hearing loss, and muscle weakness.
Curation actions
- Keep this record mapped to
Adenosine_Kinase_Deficiency.yaml. - Consider adding IEMbase compartment-specific adenosine, SAM/SAH, liver, coagulation, glucose, uric-acid, hearing, and neuroimaging prompts after source review.
- Preserve the no-treatment-row status; do not infer a disease-modifying therapy from the IEMbase cache.