PMID- 20843525
OWN - NLM
STAT- MEDLINE
DCOM- 20110106
LR  - 20240109
IS  - 1097-6833 (Electronic)
IS  - 0022-3476 (Linking)
VI  - 158
IP  - 1
DP  - 2011 Jan
TI  - Prevalence and distribution of the c.1436C-->T sequence variant of carnitine 
      palmitoyltransferase 1A among Alaska Native infants.
PG  - 124-9
LID - 10.1016/j.jpeds.2010.07.031 [doi]
AB  - 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.
CI  - Copyright (c) 2011 Mosby, Inc. All rights reserved.
FAU - Gessner, Bradford D
AU  - Gessner BD
AD  - Alaska Division of Public Health, Anchorage, AK, USA. Brad.Gessner@alaska.gov
FAU - Gillingham, Melanie B
AU  - Gillingham MB
FAU - Johnson, Monique A
AU  - Johnson MA
FAU - Richards, C Sue
AU  - Richards CS
FAU - Lambert, William E
AU  - Lambert WE
FAU - Sesser, David
AU  - Sesser D
FAU - Rien, Leanne C
AU  - Rien LC
FAU - Hermerath, Cheryl A
AU  - Hermerath CA
FAU - Skeels, Michael R
AU  - Skeels MR
FAU - Birch, Stephanie
AU  - Birch S
FAU - Harding, Cary O
AU  - Harding CO
FAU - Wood, Thalia
AU  - Wood T
FAU - Koeller, David M
AU  - Koeller DM
LA  - eng
GR  - H18MC-00004-11/PHS HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20100916
PL  - United States
TA  - J Pediatr
JT  - The Journal of pediatrics
JID - 0375410
RN  - EC 2.3.1.21 (Carnitine O-Palmitoyltransferase)
SB  - IM
MH  - Alaska
MH  - Carnitine O-Palmitoyltransferase/deficiency/*genetics
MH  - Homozygote
MH  - Humans
MH  - *Indians, North American
MH  - Infant, Newborn
MH  - Neonatal Screening
MH  - Sensitivity and Specificity
MH  - Tandem Mass Spectrometry
EDAT- 2010/09/17 06:00
MHDA- 2011/01/07 06:00
CRDT- 2010/09/17 06:00
PHST- 2010/02/18 00:00 [received]
PHST- 2010/06/15 00:00 [revised]
PHST- 2010/07/21 00:00 [accepted]
PHST- 2010/09/17 06:00 [entrez]
PHST- 2010/09/17 06:00 [pubmed]
PHST- 2011/01/07 06:00 [medline]
AID - S0022-3476(10)00609-8 [pii]
AID - 10.1016/j.jpeds.2010.07.031 [doi]
PST - ppublish
SO  - J Pediatr. 2011 Jan;158(1):124-9. doi: 10.1016/j.jpeds.2010.07.031. Epub 2010 Sep 
      16.