Document Detail


Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
MedLine Citation:
PMID:  12410208     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Georgirene D Vladutiu; Elizabeth J Quackenbush; Bryan E Hainline; Simone Albers; David S Smail; Michael J Bennett
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  141     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  2002 Nov 
Date Detail:
Created Date:  2002-10-31     Completed Date:  2002-12-11     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  734-6     Citation Subset:  AIM; IM    
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.
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MeSH Terms
Descriptor/Qualifier:
Carnitine O-Palmitoyltransferase / deficiency*
Chromosome Deletion*
DNA Mutational Analysis
Heterozygote
Humans
Hypoglycemia / diagnosis,  genetics
Infant
Male
Phenotype
Point Mutation*
Chemical
Reg. No./Substance:
EC 2.3.1.21/Carnitine O-Palmitoyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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