ORPHA:408
Isolated glycerol kinase deficiency
Also called Hyperglycerolemia
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- X-linked recessive
- Typical age of onset
- All ages
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:408 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Intellectual disability
- Hypotonia
- Global developmental delay
- Reduced tendon reflexes
- Metabolic acidosis
- Abnormality of speech or vocalization