Metabolic acidosis, elevation of blood pyruvate, lactate and alanine, all signify the nonconversion of pyruvate to acteyl CoA…The persistent metabolic acidosis is due to accumulation of lactates in blood.
Increased lactate and pyruvate levels.
Increased alanine levels in serum and urine.
Definitive diagnosis-Enzyme assay…Functional assays in leucocytes, fibroblasts
MRI shortly after birth reveal ventricular dilation, cerebral atrophy
Cofactor supplementation with thiamine, carnitine, lipoic acid