Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl