title: Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Molecular Neurology Research Programs Unit, Department of Pediatric Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
authors.forename: Eva
authors.initials: E
authors.lastname: Roomets
authors.forename: Padmini P
authors.initials: PP
authors.lastname: Polinati
authors.forename: Liliya
authors.initials: L
authors.lastname: Euro
authors.forename: Petra M
authors.initials: PM
authors.lastname: Eskelin
authors.forename: Aila
authors.initials: A
authors.lastname: Paganus
authors.forename: Tiina
authors.initials: T
authors.lastname: Tyni
mesh_terms: D000293:Adolescent; D000328:Adult; D015153:Blotting, Western; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D004035:Diet Therapy; D005260:Female; D005387:Finland / Q000453:epidemiology; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D055815:Young Adult
chemical_list: D002334:Carnitine O-Palmitoyltransferase