PMID- 21962599
OWN - NLM
STAT- MEDLINE
DCOM- 20120327
LR  - 20120214
IS  - 1097-6833 (Electronic)
IS  - 0022-3476 (Linking)
VI  - 160
IP  - 3
DP  - 2012 Mar
TI  - Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A 
      deficiency and long-term follow-up in Finland.
PG  - 473-479.e1
LID - 10.1016/j.jpeds.2011.08.032 [doi]
AB  - OBJECTIVE: To assess the long-term clinical course of carnitine 
      palmitoyltransferase 1A (CPT1A) deficiency, caused by the c.1364A>C (p.K455T) 
      mutation, and the carrier frequency of this mutation in Finland. STUDY DESIGN: 
      This was a long-term follow-up of patients in whom the common mutation was 
      detected. RESULTS: Between 1999 and 2010, 6 cases of CPT1A deficiency were 
      diagnosed and treated with a high-carbohydrate, low-fat diet. The patients 
      experienced their first symptoms during the first years of life, provoked by 
      viral illness and/or fasting. The clinical features included hypoketotic 
      hypoglycemia, hepatopathy, and loss of consciousness, ranging from transient 
      unconsciousness to prolonged hyperlipidemic coma. Five cases carried a homozygous 
      c.1364A>C (p.K455T) mutation, whereas 1 case had a compound c.1364A>C/c.1493A>C 
      (p.Y498S) mutation. During dietary therapy, the patients had few transient 
      decompensations. No carriers of mutation c.1364A>C were detected by 
      minisequencing of 150 control samples. CONCLUSION: Even though CPT1A deficiency 
      may be life-threatening and lead to prolonged coma, the long-term prognosis is 
      good. A genotype-phenotype correlation implies that the mutations detected are 
      disease-causing. Despite Finland's location close to the Arctic polar region, the 
      carrier frequency of the c.1364A>C mutation in Finland is far lower than that of 
      the variants found in Alaskan, Canadian, and Greenland native populations.
CI  - Copyright A(c) 2012 Mosby, Inc. All rights reserved.
FAU - Roomets, Eva
AU  - Roomets E
AD  - Molecular Neurology Research Programs Unit, Department of Pediatric Neurology, 
      Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
FAU - Polinati, Padmini P
AU  - Polinati PP
FAU - Euro, Liliya
AU  - Euro L
FAU - Eskelin, Petra M
AU  - Eskelin PM
FAU - Paganus, Aila
AU  - Paganus A
FAU - Tyni, Tiina
AU  - Tyni T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110929
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  - Adolescent
MH  - Adult
MH  - Blotting, Western
MH  - Carnitine O-Palmitoyltransferase/deficiency/*genetics/metabolism
MH  - Child
MH  - Child Development
MH  - Child, Preschool
MH  - Diet Therapy
MH  - Female
MH  - Finland/epidemiology
MH  - Follow-Up Studies
MH  - Genetic Association Studies
MH  - *Heterozygote
MH  - Humans
MH  - Male
MH  - *Mutation, Missense
MH  - Young Adult
EDAT- 2011/10/04 06:00
MHDA- 2012/03/28 06:00
CRDT- 2011/10/04 06:00
PHST- 2011/02/18 00:00 [received]
PHST- 2011/06/29 00:00 [revised]
PHST- 2011/08/10 00:00 [accepted]
PHST- 2011/10/04 06:00 [entrez]
PHST- 2011/10/04 06:00 [pubmed]
PHST- 2012/03/28 06:00 [medline]
AID - S0022-3476(11)00827-4 [pii]
AID - 10.1016/j.jpeds.2011.08.032 [doi]
PST - ppublish
SO  - J Pediatr. 2012 Mar;160(3):473-479.e1. doi: 10.1016/j.jpeds.2011.08.032. Epub 
      2011 Sep 29.