RESUMO
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. The diagnosis should be considered in the context of hyperbilirubinemia with normal serum bile acids and made by urinary liquid secondary ionization mass spectrometry or DNA testing. Cholic acid is an effective treatment of most single-enzyme defects and patients with Zellweger spectrum disorder with liver disease.
Assuntos
Ácidos e Sais Biliares/metabolismo , Colestase/etiologia , Hepatopatias/etiologia , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/genética , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , Acil-CoA Oxidase/deficiência , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/genética , Aminoácido N-Acetiltransferase/deficiência , Ácido Cólico/uso terapêutico , Testes Genéticos , Humanos , Hepatopatias/patologia , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/tratamento farmacológico , Racemases e Epimerases/deficiência , Esteroide Hidroxilases/deficiência , Xantomatose Cerebrotendinosa/complicações , Xantomatose Cerebrotendinosa/genéticaRESUMO
(1) N-acetylglutamate synthase deficiency is a rare congenital disorder that causes hyperammonaemic comas, resulting in severe neurological morbidity and usually leading to death during childhood. (2) Carglumic acid is the first drug to be used for replacement therapy. Data available in 2003 showed beneficial effects on growth and psychomotor development. (3) In 2007, about 20 patients treated with carglumic acid for N-acetyglutamate synthase deficiency, for at least 5 years in half of cases, were all still alive. Their development was normal when treatment was initiated before complications occurred. (4) No serious adverse effects have been observed. (5) In practice, although this treatment has to continue for life, carglumic acid represents a major advance for patients with N-acetylglutamate synthase deficiency.