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 g...

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Veröffentlicht in:	Pediatric neurology 1991-03, Vol.7 (2), p.137-140
Hauptverfasser:	Mayatepek, Ertan, Kurczynski, Thaddeus W., Hoppel, Charles L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - drug therapy Biological and medical sciences Carnitine - blood Carnitine - therapeutic use Carnitine - urine Child, Preschool Female General and cellular metabolism. Vitamins Humans Medical sciences Pentanoic Acids - blood Pharmacology. Drug treatments Time Factors
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Beschreibung
Zusammenfassung:	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.
ISSN:	0887-8994 1873-5150
DOI:	10.1016/0887-8994(91)90011-9