What Is Pyruvate Dehydrogenase Deficiency?

Autosomal recessive and X-linked genotypes have been reported. Enzyme complexes have different subunits, and defects in multiple genes can cause deficiency. Clinical manifestations include lactic acidemia, ataxia, retardation of neuromotor development, cerebral cortex, brain Dry and cystic lesions of the basal ganglia. Confirmation of a lack of enzymatic activity in skin fibroblasts can be clearly diagnosed. There is no effective treatment, but a low-carb or ketogenic diet can be tried, as well as dietary thiamine supplementation.

Pyruvate dehydrogenase complex deficiency

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Autosomal recessive and X-linked genotypes have been reported. Enzyme complexes have different subunits, and defects in multiple genes can cause deficiency. Clinical manifestations include lactic acidemia, ataxia, retardation of neuromotor development, cerebral cortex, brain Dry and cystic lesions of the basal ganglia. Confirmation of a lack of enzymatic activity in skin fibroblasts can be clearly diagnosed. There is no effective treatment, but a low-carb or ketogenic diet can be tried, as well as dietary thiamine supplementation.