title: Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.
abstract: Systemic primary carnitine deficiency is an autosomal recessive disorder caused by the deficiency of carnitine transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with a novel SLC22A5 gene mutation presented with a pure cardiac phenotype. During the 14-year follow-up study, cardiac functions were remained within a normal range with oral L-carnitine supplementation.
authors.forename: Berna Seker
authors.initials: BS
authors.lastname: Yilmaz
authors.forename: Deniz
authors.initials: D
authors.lastname: Kor
authors.forename: Neslihan Onenli
authors.initials: NO
authors.lastname: Mungan
authors.forename: Sevcan
authors.initials: S
authors.lastname: Erdem
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000188:drug therapy / Q000235:genetics*; D002331:Carnitine / Q000172:deficiency* / Q000235:genetics / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D020249:Hormone Replacement Therapy; D006801:Humans; D022124:Hyperammonemia / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009135:Muscular Diseases / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D000074058:Solute Carrier Family 22 Member 5; D014421:Turkey
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine