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Metabolism Diseases

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Pregunta:

PDH deficiency

Autor: Satvika Sinha



Respuesta:

Rare X-linked genetic defect in PDH, but the most common cause of congenital lactic acidosis No pyruvate conversion to Acetyl-CoA • Pyruvate cannot be processed and is reduced to lactate or converted to amino acids • Presents at birth with neurodegeneration, muscle abnormalities and may cause death in neonatal period • Management includes dietary restriction of carbohydrates and proteins, and vit. B supplement. This reduced the amount of lactic acids formed due to less pyruvates produced.


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