RESUMO
There is a correlation between pregnancy complications such as acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. We diagnosed another fatty acid beta-oxidation defect, short-chain acyl-coenzyme A dehydrogenase deficiency, in an infant when evaluating him because his mother had acute fatty liver of pregnancy. Other beta-oxidation defects, in addition to LCHAD deficiency, should be considered in children born after pregnancies complicated by liver disease.
Assuntos
Ácidos Graxos Dessaturases/deficiência , Fígado Gorduroso/complicações , Complicações na Gravidez , Adulto , Ácidos Graxos Dessaturases/genética , Fígado Gorduroso/diagnóstico , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Complicações na Gravidez/diagnósticoRESUMO
An increasing number of reports indicate that patients with some inherited metabolic diseases may have symptoms resembling those of Reye syndrome. We describe two siblings who developed a Reye-like syndrome at ages 16 and 18 months, respectively, after a viral illness and salicylate therapy. Both had fasting hypoglycemia and hypoketonemia. At the time of the acute episode and after ingestion of a medium-chain triglyceride load, one of them excreted large amounts of abnormal metabolites derived from the omega- and (omega-1)-oxidation of medium-chain fatty acids. Medium-chain acyl-CoA dehydrogenase activity was lower than 20% of control values in fibroblasts from both patients. This enzyme defect should be considered in children with a Reye-like syndrome with these distinctive manifestations.
Assuntos
Acil-CoA Desidrogenases/genética , Síndrome de Reye/genética , Acil-CoA Desidrogenase , Acil-CoA Desidrogenases/deficiência , Acil-CoA Desidrogenases/urina , Glicemia/metabolismo , Caprilatos/sangue , Carnitina/metabolismo , Ácidos Graxos não Esterificados/metabolismo , Feminino , Fibroblastos/enzimologia , Humanos , Lactente , Fígado/enzimologia , Fígado/patologia , Masculino , Síndrome de Reye/enzimologia , Síndrome de Reye/patologiaRESUMO
The autosomal recessive inherited disorder glutaryl-CoA dehydrogenase deficiency (glutaric aciduria) runs a progressive course with severe choreoathetosis and dystonia, eventually leading to total helplessness and early death. Theree patients were observed during therapeutic trials with a protein-low diet, riboflavin and GABA analogue. Diet and riboflavin had a slight-to-moderate effect on the clinical symptoms; the excretion of glutaric acid and 2-amino-adipic acid decreased considerably during treatment. Regression of neurologic symptoms was observed during treatment with GABA analogue. It is concluded that the patients should be treated as early as possible with protein-low diet, riboflavin, and GABA analogue.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/terapia , Aminobutiratos/uso terapêutico , Baclofeno/uso terapêutico , Glutaratos/urina , Oxirredutases/metabolismo , Riboflavina/uso terapêutico , Ácido 2-Aminoadípico/urina , Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Erros Inatos do Metabolismo dos Aminoácidos/tratamento farmacológico , Criança , Dietoterapia , Proteínas Alimentares/uso terapêutico , Feminino , Humanos , Lisina/metabolismo , Masculino , Triptofano/metabolismoRESUMO
In two siblings with dystonic cerebral palsy the urinary metabolic profiles of organic acids were dominated by glutaric acid, a metabolite not normally present in urine. The exretion of glutaric acid amounted to several grams per day. The urinary excretion of beta-OH-glutaric acid and glutaconic acid was also enhanced. Imparied metabolism of glutaryl-CoA by leukocytes indicates that the patients suffer from an inborn error of lysine, tryptophan, and hydroxylysine metabolism. A defective oxidation of glutaryl-CoA to crotonyl-CoA, probably due to a deficiency of glutaryl-CoA dehydrogenase, is consistent with these findings.