Chapter 9, Problem 55TQ

Summary Introduction

To review:

The way in which pyruvate deficiency causes elevated blood levels of lactate, pyruvat, end alanine.

Introduction:

Pyruvate dehydrogenase deficiency (PDH) is an X-linked disorder generally caused by a mutation in the genes encoding PDH subunits. PDH deficiency is characterized by mental retardation, lactic acidosis, coma, and microcephaly. It is usually diagnosed in children more than in adults.