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 Hainline, Simone Albers, David S. Smail, Michael J. Bennett

Research output: Contribution to journalArticle

17 Citations (Scopus)

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

Fingerprint

Mutation
Hypoglycemia
Point Mutation
Proteins
Phenotype
Infantile Carnitine Palmitoyltransferase II Deficiency
Lethal Neonatal Carnitine Palmitoyltransferase II Deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. / Vladutiu, Georgirene D.; Quackenbush, Elizabeth J.; Hainline, Bryan; Albers, Simone; Smail, David S.; Bennett, Michael J.

In: Journal of Pediatrics, Vol. 141, No. 5, 01.11.2002, p. 734-736.

Research output: Contribution to journalArticle

Vladutiu, Georgirene D. ; Quackenbush, Elizabeth J. ; Hainline, Bryan ; Albers, Simone ; Smail, David S. ; Bennett, Michael J. / Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. In: Journal of Pediatrics. 2002 ; Vol. 141, No. 5. pp. 734-736.
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