Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.

Abstract excerpt

We describe a lethal neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency with compound heterozygosity for 2 truncation mutations (Q413fs and 109AGC --> GCAGC). A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H).

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