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Pyruvate Dehydrogenase E1-Alpha Deficiency (MONDO:0010717)

Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0010717

Internal:11858

Synonyms

pyruvate decarboxylase deficiency

PDHAD

pyruvate dehydrogenase E1-alpha deficiency

pyruvate dehydrogenase complex E1 component subunit alpha deficiency

pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant

PDH deficiency

ataxia with lactic acidosis 1

ataxia, intermittent, with abnormal pyruvate metabolism

ataxia, intermittent, with pyruvate dehydrogenase deficiency

ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency

lactic acidemia, thiamine-responsive

pyruvate dehydrogenase Complex deficiency

pyruvate dehydrogenase E1-ALPHA deficiency

Mapped terms

GARD:0004620

ICD9:277.6

MEDGEN:326486

MESH:C564071

OMIM:312170

Orphanet:79243

SCTID:124593001

UMLS:C1839413

Child terms

Unknown children.

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