5C53.02Ангилал
Pyruvate dehydrogenase complex deficiency
Тодорхойлолт
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders.
Индексийн нэр томьёо Index terms · 28
Pyruvate dehydrogenase complex deficiencyAtaxia with lactic acidosisPDC - [Pyruvate dehydrogenase complex] deficiencypyruvate dehydrogenase deficiencyataxia with lactic acidosis 1ataxia with lactic acidosis 2Pyruvate dehydrogenase complex E1-alpha subunit deficiencyPyruvate dehydrogenase complex E1 subunit deficiencyPyruvate decarboxylase deficiencyPyruvate dehydrogenase complex E1-beta subunit deficiencyPyruvate dehydrogenase complex E2 subunit deficiencyDihydrolipoyl acetyltransferase deficiencyDihydrolipoyl transacetylase deficiencyDihydrolipoamide acetyltransferase deficiencyDihydrolipolyllysine-residue acetyltransferaseLipoate acetyltransferase deficiencyLipoate transacetylase deficiencyPyruvate dehydrogenase complex E3 subunit deficiencyDihydrolipoyl dehydrogenase deficiencyDihydrolipoamide dehydrogenase deficiencyLipoamide dehydrogenase deficiencyLipoamide oxidoreductase deficiencyDiaphorase deficiencyLactic acidosis due to LAD deficiencyPyruvate dehydrogenase complex E3-binding protein deficiencyPyruvate dehydrogenase phosphatase deficiencyPhosphopyruvate dehydrogenase phosphatase deficiencyPDH - [Pyruvate dehydrogenase] phosphatase deficiency
Монгол орчуулга хянагдаж байгаа тул англи эхийг харуулж байна. Эх сурвалж: WHO ICD-11 (MMS) · WHO сайтад харах ↗