IEMbase 0537: SUGCT-related glutaric aciduria type 3
Scope
| Field | Value |
|---|---|
| IEMbase ID | 537 |
| Nosology | 1.2.06.01 |
| Gene | SUGCT |
| External IDs | OMIM:231690; ORPHA:35706 |
| Generated mapping | CANDIDATE; fuzzy alias match to Glutaryl-CoA_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SUGCT-related succinate-hydroxymethylglutarate-CoA transferase deficiency, with glutaric aciduria type 3 and GA3 as alternate labels. The record is autosomal recessive, subtype is marked benign form, and no treatments are listed.
The biochemical signal is increased glutaric acid in plasma and urine with normal urinary 3-hydroxyglutaric acid. The clinical row is no clinical significance.
DisMech phenotype coverage
The generated Glutaryl-CoA_Dehydrogenase_Deficiency.yaml candidate is a false
positive caused by glutaric-aciduria vocabulary overlap. The local file is
GCDH-related glutaric aciduria type 1, a lysine/tryptophan catabolism disorder
with neurotoxic glutaric and 3-hydroxyglutaric acid accumulation, striatal
injury risk, dystonia, newborn-screening context, and metabolic treatment.
No local file was found for SUGCT, glutaric aciduria type 3, or succinate-hydroxymethylglutarate-CoA transferase deficiency.
Concordance and completeness
Judgement: true local gap; reject the glutaric aciduria type 1 candidate.
This IEMbase record is specifically SUGCT/GA3 and is marked benign with normal 3-hydroxyglutaric acid and no clinical significance. That is mechanistically and clinically distinct from GCDH/GA1.
Curation actions
- Keep this record unmapped until a SUGCT / glutaric aciduria type 3 target exists.
- Do not map to
Glutaryl-CoA_Dehydrogenase_Deficiency.yaml. - Preserve the benign-form scope, increased plasma/urine glutaric acid, normal urinary 3-hydroxyglutaric acid, and no-clinical-significance row.