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

Georgirene D. Vladutiu, Elizabeth J. Quackenbush, Bryan E. Hainline, Simone Albers, David S. Smail, Michael J. Bennett

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Abstract

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).

Original languageEnglish (US)
Pages (from-to)734-736
Number of pages3
JournalJournal of Pediatrics
Volume141
Issue number5
DOIs
StatePublished - Nov 1 2002

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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