[Carnitine deficiency in inborn errors of metabolism].
Several conditions, considered as inborn errors of metabolism, involve severe deficiencies in carnitine in both plasma and muscle. In the absence of evidence suggesting primary carnitine deficiency due to a biosynthetic enzymatic defect in the liver, the various diseases with carnitine deficiency are related to genetic defects in organic acid metabolism leading to blocked mitochondrial beta oxidation. We describe a 4.5-year-old boy and 2 female infants with glutaric aciduria type I, isovaleric acidemia, and long-chain acid dehydrogenase deficiency, in whom severe carnitine deficiency was apparent. In all 3, long-term carnitine treatment proved to be vital and eliminated most of the symptoms.
Sela
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BA
Institute of Chemical Pathology, Chaim Sheba Medical Center.
Lerman-Sagie
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T
Berkovitz
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M
D044942:Acyl-CoA Dehydrogenase, Long-Chain; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy / Q000378:metabolism*; D002331:Carnitine / Q000172:deficiency* / Q000627:therapeutic use*; D002675:Child, Preschool; D044943:Fatty Acid Desaturases / Q000172:deficiency; D005260:Female; D005977:Glutarates / Q000652:urine; D045782:Hemiterpenes; D006801:Humans; D007223:Infant; D008297:Male; D010421:Pentanoic Acids / Q000097:blood
D005977:Glutarates; D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid; D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain; C035736:glutaric acid; D002331:Carnitine