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pyruvate dehydrogenase deficiency
Genetics:
- associated with defects in DLAT
Clinical manifestations:
- primary lactic acidosis & neurological dysfunction in infancy & early childhood
- episodic dystonia is the major neurological manifestation with DLAT deficiency
- hypotonia & ataxia features of other forms
Related
pyruvate dehydrogenase
General
inborn error of metabolism
References
UniProt :accession P10515