A newborn presents with severe acidosis, vomiting, hypotonia, and neurologic deficits. Serum analysis reveals elevated levels of lactate and alanine. These observations suggest a deficiency in which of the following enzymes?
Pyruvate dehydrogenase (PDH) catalyzes the irreversible conversion of pyruvate to acetyl-CoA. If PDH is absent, pyruvate will be used in other pathways instead. Pyruvate will be conveed to alanine alanine aminotransferase and to lactate lactate dehydrogenase Glutamate dehydrogenase is involved in oxidative deamination, releasing ammonium ion for urea synthesis. Deficiency of this enzyme would not cause the symptoms described. Ref: Botham K.M., Mayes P.A. (2011). Chapter 23. Biosynthesis of Fatty Acids & Eicosanoids. In D.A. Bender, K.M. Botham, P.A. Weil, P.J. Kennelly, R.K. Murray, V.W. Rodwell (Eds), Harper's Illustrated Biochemistry, 29e.
Alanine aminotransferase
Glutamate dehydrogenase
Lactate dehydrogenase
Pyruvate dehydrogenase