title: Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
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).
authors.affiliation: Division of Genetics, Children's Hospital of Buffalo and Department of Pediatrics, School of Medicine and Biomedical Sciences, University at Buffalo, New York 14209, USA.
authors.forename: Georgirene D
authors.initials: GD
authors.lastname: Vladutiu
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Quackenbush
authors.forename: Bryan E
authors.initials: BE
authors.lastname: Hainline
authors.forename: Simone
authors.initials: S
authors.lastname: Albers
authors.forename: David S
authors.initials: DS
authors.lastname: Smail
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bennett
mesh_terms: D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D007003:Hypoglycemia / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D008297:Male; D010641:Phenotype; D017354:Point Mutation
chemical_list: D002334:Carnitine O-Palmitoyltransferase