Document Detail

Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.
MedLine Citation:
PMID:  20843525     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: To use genotype analysis to determine the prevalence of the c.1436C→T sequence variant in carnitine palmitoyltransferase 1A (CPT1A) among Alaskan infants, and evaluate the sensitivity of newborn screening by tandem mass spectrometry (MS/MS) to identify homozygous infants.
STUDY DESIGN: We compared MS/MS and DNA analyses of 2409 newborn blood spots collected over 3 consecutive months.
RESULTS: Of 2409 infants, 166 (6.9%) were homozygous for the variant, all but one of whom were of Alaska Native race. None of the homozygous infants was identified by MS/MS on the first newborn screen using a C0/C16 + C18 cutoff of 130. Among 633 Alaska Native infants, 165 (26.1%) were homozygous and 218 (34.4%) were heterozygous for the variant. The prevalence was highest in Alaska's northern/western regions (51.2% of 255 infants homozygous; allele frequency, 0.7).
CONCLUSIONS: The CPT1A c.1436C→T variant is prevalent among some Alaska Native peoples, but newborn screening using current MS/MS cutoffs is not an effective means to identify homozygous infants. The clinical consequences of the partial CPT1A deficiency associated with this variant are unknown. If effects are substantial, revision of newborn screening, including Alaska-specific MS/MS cutoffs and confirmatory genotyping, may be needed.
Bradford D Gessner; Melanie B Gillingham; Monique A Johnson; C Sue Richards; William E Lambert; David Sesser; Leanne C Rien; Cheryl A Hermerath; Michael R Skeels; Stephanie Birch; Cary O Harding; Thalia Wood; David M Koeller
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.     Date:  2010-09-16
Journal Detail:
Title:  The Journal of pediatrics     Volume:  158     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2010-12-14     Completed Date:  2011-01-06     Revised Date:  2011-01-28    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  124-9     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2011 Mosby, Inc. All rights reserved.
Alaska Division of Public Health, Anchorage, AK, USA.
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MeSH Terms
Carnitine O-Palmitoyltransferase / deficiency,  genetics*
Indians, North American*
Infant, Newborn
Neonatal Screening
Sensitivity and Specificity
Tandem Mass Spectrometry
Grant Support
H18MC-00004-11//PHS HHS
Reg. No./Substance:
EC O-Palmitoyltransferase

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

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