Medium-chain acyl-CoA dehydrogenase deficiency \((\mathrm{MCAD}),\) a defect in
\(\beta\) -oxidation, usually produces symptoms within the first 2 years of life
after a period of fasting. Typical symptoms include vomiting, lethargy, and
hypoketotic hypoglycemia. Excessive urinary secretion of medium-chain
dicarboxylic acids and medium-chain esters of glycine and carnitine help to
establish the diagnosis.
The lack of ketone bodies in the presence of low blood glucose in this case is
unusual since ketone body concentrations usually increase with fasting-induced
hypoglycemia. Ketone bodies
A. are formed by removal of CoA from the corresponding intermediate of \(\beta\)
-oxidation.
B. are synthesized from cytoplasmic \(\beta\) -hydroxy- \(\beta\) -methyl glutaryl
coenzyme \(A(\mathrm{H} \mathrm{MG}-\mathrm{CoA})\)
C. are synthesized primarily in muscle tissue.
D. include both \(\beta\) -hydroxybutyrate and acetoacetate, the ratio
reflecting the intramitochondrial [NADH]/[NAD \(\left.^{+}\right]\) ratio in
liver.
E. form when \(\beta\) -oxidation is interrupted.