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  • Title: [Carnitine deficiency in inborn errors of metabolism].
    Author: Sela BA, Lerman-Sagie T, Berkovitz M.
    Journal: Harefuah; 1997 Nov 16; 133(10):419-23, 504. PubMed ID: 9418309.
    Abstract:
    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.
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