Long-term L-carnitine treatment in isovaleric acidemia.
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.
Mayatepek
E
E
Department of Pediatrics, Medical College of Ohio, Toledo 43699-0008.
Kurczynski
T W
TW
Hoppel
C L
CL
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
D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid; D002331:Carnitine