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Definition

An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.

Acronym

PDHAD

Synonyms

Ataxia intermittent with abnormal pyruvate metabolism
Ataxia intermittent with pyruvate dehydrogenase or decarboxylase deficiency
Ataxia with lactic acidosis I
PDH deficiency
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase deficiency

 
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Main funding by: National Institutes of Health

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