کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6225306 1607484 2012 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Carrier Frequency of a Common Mutation of Carnitine Palmitoyltransferase 1A Deficiency and Long-Term Follow-Up in Finland
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Carrier Frequency of a Common Mutation of Carnitine Palmitoyltransferase 1A Deficiency and Long-Term Follow-Up in Finland
چکیده انگلیسی

ObjectiveTo 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 designThis was a long-term follow-up of patients in whom the common mutation was detected.ResultsBetween 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.ConclusionEven 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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Pediatrics - Volume 160, Issue 3, March 2012, Pages 473-479.e1
نویسندگان
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