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

More general terms

• inborn error of metabolism

Additional terms

• pyruvate dehydrogenase