D-glyceric aciduria

Orpha code: 941OMIM code: 220120

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.

Disease data
Classification

Disease

Synonyms
D-glycerate kinase deficiency
Kwasica D-glicerynowa
Niedobór kinazy D-glicerynowej
D-glyceric acidemia
ORPHA code
941
OMIM code
220120
ICD10 code
E74.8
ICD11 code
5C50.7Y

No additional description.

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