IEMbase 0671: CRAT-related carnitine acetyltransferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 671 |
| Nosology | 4.1.08.01 |
| Nosology code | IEM1167 |
| Gene | CRAT |
| External IDs | OMIM:606175 |
| Generated mapping | UNMAPPED; best candidate Carnitine_Palmitoyltransferase_II_Deficiency.yaml |
| Candidate DisMech targets | No exact CRAT target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents CRAT-related carnitine acetyltransferase deficiency.
The record is clinical-only in this cached extract. Childhood features include ataxia, consciousness disturbance, hypotonia, intellectual disability, and oculomotor apraxia.
DisMech phenotype coverage
No exact CRAT or carnitine acetyltransferase deficiency target was identified.
Carnitine_Palmitoyltransferase_II_Deficiency.yaml is a false target despite
the carnitine-related name. It models CPT2 long-chain fatty-acid oxidation and
the carnitine shuttle, including myopathic and severe neonatal/infantile CPT II
phenotypes. CRAT is a carnitine acetyltransferase/acetyl-CoA handling disorder
with a neurodevelopmental signal in IEMbase, not CPT II deficiency.
Carnitine_Palmitoyltransferase_1A_Deficiency.yaml contains only broad CPT1
isoform and population-genetics mentions that include CRAT; it is not disease
coverage for CRAT deficiency.
Concordance and completeness
Judgement: true local gap.
The IEMbase phenotype package is neurologic and childhood-onset, with ataxia, oculomotor apraxia, consciousness disturbance, hypotonia, and intellectual disability. Existing CPT1A/CPT2 files should not be stretched to cover this record.
Curation actions
- Add a dedicated CRAT/carnitine acetyltransferase deficiency target if curated.
- Reject CPT II deficiency as exact coverage.
- Preserve ataxia and oculomotor apraxia as discriminating neurologic prompts.
- Source-review inheritance and biochemical markers before any KB import, since the cached IEMbase row has limited biochemical detail.