title: Long-term L-carnitine treatment in isovaleric acidemia.
abstract: A 5-year-old girl with isovaleric acidemia was treated with long-term L-carnitine and no supplemental glycine. Clinical and laboratory data are presented. Following diagnosis and treatment at age 2 years, the frequency of acute exacerbations of metabolic acidosis was reduced and she resumed normal growth and development. L-carnitine supplementation and protein restriction may be sufficient for effective therapy of isovaleric acidemia.
authors.affiliation: Department of Pediatrics, Medical College of Ohio, Toledo 43699-0008.
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: T W
authors.initials: TW
authors.lastname: Kurczynski
authors.forename: C L
authors.initials: CL
authors.lastname: Hoppel
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy*; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use* / Q000652:urine; D002675:Child, Preschool; D005260:Female; D045782:Hemiterpenes; D006801:Humans; D010421:Pentanoic Acids / Q000097:blood*; D013997:Time Factors
chemical_list: D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid; D002331:Carnitine