Antenatal presentation of carnitine palmitoyltransferase II deficiency

Carnitine palmitoyl transferase (CPT) II deficiency is usually manifested a round puberty by exercise induced myoglobinuria. Two Ashkenazi Jewish sibs with the rare antenatal form of CPTII deficiency are reported, On the 5th g estational month periventricular calcifications and markedly enlarged kidne ys were found in both of them. The activity of CPTII in lymphocytes was und etectable and both sibs were homozygous for the 1237delAG mutation. Because of the serious consequences of homozygosity for this mutation, genotype de termination of all Ashkenazi patients with the adolescent form of CPTII def iciency is warranted. (C) 2001 Wiley-Liss,Inc.