D-glyceric aciduria
ORPHA:941· ICD-10 E74.8
Definition
A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages