IEMbase 0144: AMPD1-related myoadenylate deaminase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 144 |
| Nosology | 16.2.04.01 |
| Gene | AMPD1 |
| External IDs | OMIM:102770; ORPHA:45 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No valid AMPD1 target found; ADA deficiency candidate is false |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as AMPD1-related myoadenylate deaminase deficiency, with alternate label adenosine monophosphate deaminase deficiency and abbreviation AMPD. Treatability is marked yes.
The biochemical signal is muscle adenosine monophosphate deaminase deficiency, increased plasma creatine kinase, and decreased plasma ammonia response during ischemic muscle exercise testing. Clinical rows include exercise intolerance, muscle cramps, and an acquired or associated form in neuromuscular or rheumatologic disorders.
DisMech phenotype coverage
No local AMPD1 or myoadenylate deaminase deficiency entry was found. The generated best candidate, ADA deficiency in the SCID entry, is a purine-pathway neighbor but involves a different gene, enzyme, tissue vulnerability, and clinical syndrome.
Other exercise-intolerance or muscle-energy entries in the KB do not provide a specific AMPD1 disease target.
Concordance and completeness
Judgement: true unmapped local disease gap.
The IEMbase record is a muscle purine-nucleotide-cycle disorder, not ADA-SCID and not a generic mitochondrial or glycogen-exercise-intolerance entry. Current DisMech lacks the AMPD1 enzyme-deficiency target.
Curation actions
- Keep this record unmapped.
- Reject ADA deficiency as a false purine-metabolism neighbor.
- Future curation should add AMPD1/myoadenylate deaminase deficiency with muscle AMP deaminase activity, exercise intolerance, cramps, CK elevation, and the blunted exercise-test ammonia response.