Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.

Abstract excerpt

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...

Topics

• Adolescent
• Cardiomyopathies
• Carnitine
• Child
• Child, Preschool
• Hormone Replacement Therapy
• Humans
• Hyperammonemia
• Male
• Muscular Diseases
• Mutation
• Organic Cation Transport Proteins
• Solute Carrier Family 22 Member 5
• Turkey