A full term female infant failed to gain weight and showed metabolic acidosis in the neonatal period…
Physical examination at 7 months showed failure to thrive, hypotonia, small muscle mass , severe head lag and a persistent acidosis.(pH 7-7.2).
Blood lactate, pyruvate, alanine, were greatly elevated.
Diagnosis
Pyruvate dehydrogenase complex deficiency
Explanantion
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.
Investigations
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
Treatment
Cofactor supplementation with thiamine, carnitine, lipoic acid