isolated glycerol kinase deficiency
Findings
No curated finding names isolated glycerol kinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).
Definition from the Mondo Disease Ontology (MONDO:0018459), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Adrenocortical hypoplasiaHPOHP:0008182
- Very frequent (80% to 99% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Show the remaining 5
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- HyperlordosisHPOHP:0003307
- Frequent (30% to 79% of cases)
- OsteoporosisHPOHP:0000939
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: isolated glycerol kinase deficiency
- Also called
- hyperglycerolemiaisolated inborn glycerol kinase deficiencynonsyndromic glycerol kinase deficiencynonsyndromic inborn glycerol kinase deficiency