IEMbase 0542: GK-related isolated glycerol kinase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 542 |
| Nosology | 3.2.01.01 |
| Gene | GK |
| External IDs | OMIM:307030; ORPHA:408 |
| Generated mapping | UNMAPPED; low candidate BCKDK_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents isolated glycerol kinase deficiency, with hyperglycerolemia and GKD as alternate labels. The record is X-linked, subtype is marked benign form, and treatability is marked yes. No treatment rows are listed.
The characteristic biochemical rows are increased plasma and urinary glycerol and increased pseudo-triglyceride in plasma. Plasma glucose is low or normal. Clinical rows include no clinical significance across ages, with optional hypoglycemia and adult insulin-resistant diabetes.
DisMech phenotype coverage
There is no exact local DisMech target for isolated glycerol kinase deficiency.
The generated BCKDK_Deficiency.yaml candidate is a lexical kinase-deficiency
neighbor, not a glycerol-metabolism match. BCKDK deficiency models branched-chain
amino acid catabolism, low BCAAs, neurodevelopmental disease, epilepsy, and BCAA
supplementation.
No local disorder file was found for GK, glycerol kinase deficiency, hyperglycerolemia, or pseudo-hypertriglyceridemia.
Concordance and completeness
Judgement: true local gap; reject the BCKDK candidate.
The IEMbase record is a benign X-linked glycerol-metabolism disorder with pseudo-hypertriglyceridemia and glycerol elevation. It should not be mapped to branched-chain amino acid kinase disease or to neutral-lipid storage disorders.
Curation actions
- Keep this record unmapped until a GK / isolated glycerol kinase deficiency target exists.
- Do not map to
BCKDK_Deficiency.yaml. - Preserve increased plasma/urine glycerol, pseudo-triglyceride, low-normal glucose, benign/no-clinical-significance scope, hypoglycemia, and insulin-resistant diabetes prompts.