Acetyl-CoA Carboxylase Deficiency: An Inborn Error of de Novo Fatty Acid Synthesis

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Abstract
To the Editor: A newborn girl was admitted to our hospital for severe respiratory and perinatal problems. One of the most striking clinical abnormalities was hypotonie myopathy. After the perinatal problems were overcome, it became clear that she had severe brain damage, persistent myopathy, and poor growth. With the patient receiving a carbohydrate-rich diet, we observed abnormal peaks on gas-chromatographic analysis of organic acids in the urine. Massspectrometric analysis of these peaks gave evidence of the presence of 2-ethyl-3-keto-hexanoic acid, 2-ethyl-3-hydroxy-hexanoic acid, and 2-ethyl-hexanedioic acid. For reasons given below, we suspected acetyl-coenzyme A (CoA) carboxylase deficiency as the cause. We . . .

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