RESUMO
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.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Carnitina/deficiência , Carnitina/uso terapêutico , Acil-CoA Desidrogenase de Cadeia Longa , Erros Inatos do Metabolismo dos Aminoácidos/tratamento farmacológico , Pré-Escolar , Ácidos Graxos Dessaturases/deficiência , Feminino , Glutaratos/urina , Hemiterpenos , Humanos , Lactente , Masculino , Ácidos Pentanoicos/sangueRESUMO
We have described an 82-year-old man with HCL who had autoimmune manifestations, paraproteinemia, and cryoglobulinemia. Chemotherapy resulted in a dramatic response, with a decrease in the tumor mass, a reduction in the clinical and serologic features of the autoimmune syndrome, and disappearance of the cryoglobulin, but without a significant change in the serum level of paraprotein.
