pyruvate carboxylase deficiency disease/ataksija

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[Suspected pyruvate carboxylase deficiency in 4 children with Leigh disease].

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Prijava / prijava

Clinical observations and results of investigations of pyruvic acid metabolism are reported in 4 children in whom subacute necrotizing encephalomyelopathy of Leigh was diagnosed intravitally. Attention is called to the similarity of the clinical manifestations with its onset in the first year of

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.

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Prijava / prijava

The most common defect associated with deficiency of the pyruvate dehydrogenase (PDH) complex occurs in the E1 component, specifically due to mutations in the X-linked E1 alpha gene. Clinical sequelae of these mutations, which range from severe neonatal lactic acidosis to carbohydrate-sensitive

Disorders of pyruvate metabolism.

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Prijava / prijava

Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate metabolism. Diagnosis is made by enzymatic and DNA analysis after basic biochemical tests in plasma, urine, and CSF. Pyruvate dehydrogenase has three main subunits, an additional E3-binding protein

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