Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
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).
Vladutiu
Georgirene D
GD
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.
Quackenbush
Elizabeth J
EJ
Hainline
Bryan E
BE
Albers
Simone
S
Smail
David S
DS
Bennett
Michael J
MJ
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
D002334:Carnitine O-Palmitoyltransferase