Genotype-phenotype correlation in primary carnitine deficiency

Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. Lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy. Recently, asymptomatic mothers with primary carni...

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Veröffentlicht in:	Human mutation 2012-01, Vol.33 (1), p.118-123
Hauptverfasser:	Rose, Emily C., di San Filippo, Cristina Amat, Ndukwe Erlingsson, Uzochi C., Ardon, Orly, Pasquali, Marzia, Longo, Nicola
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Animals Asymptomatic Diseases Biological Transport Cardiomyopathies - complications Cardiomyopathies - genetics Cardiomyopathies - metabolism Cardiomyopathies - physiopathology Carnitine - deficiency Carnitine - genetics Carnitine - metabolism Child Child, Preschool CHO Cells Codon, Nonsense Cricetinae Cricetulus DNA Mutational Analysis Ergothioneine - metabolism Exons Female Fibroblasts - metabolism Fibroblasts - pathology Genetic Association Studies Genotype Humans Hyperammonemia - complications Hyperammonemia - genetics Hyperammonemia - metabolism Hyperammonemia - physiopathology Infant Muscular Diseases - complications Muscular Diseases - genetics Muscular Diseases - metabolism Muscular Diseases - physiopathology Mutagenesis, Site-Directed Mutation, Missense OCTN2 Organic Cation Transport Proteins - genetics Organic Cation Transport Proteins - metabolism Phenotype SLC22A5 Solute Carrier Family 22 Member 5
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