RESUMEN
Fetal abnormalities including chylous ascites, polyhydramnios, claw hands, and hammer toes were identified in an infant who had a missense mutation R106P and a 52bp deletion in the gene for a peroxisomal beta-oxidation enzyme, D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase, D-bifunctional protein. The patient had psychomotor retardation and craniofacial dysmorphism and died at 7 months of age. The patient had atypical fetal manifestations of this enzyme deficiency.
Asunto(s)
17-Hidroxiesteroide Deshidrogenasas , 3-Hidroxiacil-CoA Deshidrogenasas/deficiencia , Ascitis Quilosa/congénito , Ascitis Quilosa/complicaciones , Contractura/congénito , Contractura/complicaciones , Enoil-CoA Hidratasa , Deformidades Congénitas del Pie/complicaciones , Deformidades Congénitas de la Mano/complicaciones , Hidroliasas/deficiencia , Complejos Multienzimáticos/deficiencia , Polihidramnios/complicaciones , 3-Hidroxiacil-CoA Deshidrogenasas/genética , Ascitis Quilosa/genética , Contractura/genética , Resultado Fatal , Femenino , Deformidades Congénitas del Pie/genética , Eliminación de Gen , Deformidades Congénitas de la Mano/genética , Humanos , Hidroliasas/genética , Lactante , Recién Nacido , Masculino , Complejos Multienzimáticos/genética , Mutación Missense/genética , Proteína-2 Multifuncional Peroxisomal , EmbarazoRESUMEN
Two brothers, aged 7 and 5 years, who excreted large amounts of the leucine metabolites 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid, are described. The excretion of these metabolites could be enhanced by increasing the leucine intake. Restriction of the protein intake resulted in a marked reduction of the metabolite excretion. However, the excretion of the ultimate leucine metabolite, 3-hydroxy-3-methylglutaric acid, remained unchanged at a low level. The only clinical abnormality was speech retardation. A (partial) deficiency of 3-methylglutaconyl coenzyme A hydratase is proposed to be the most likely underlying defect.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/genética , Glutaratos/orina , Leucina/metabolismo , Errores Innatos del Metabolismo de los Aminoácidos/orina , Niño , Preescolar , Humanos , Hidroliasas/deficiencia , Masculino , Meglutol/análogos & derivados , Meglutol/orina , Trastornos del Habla/genética , Valeratos/orinaRESUMEN
Patients with homocystinuria due to cystathionine synthase deficiency do not have free homocystine in the liver when it is present in high concentrations in the plasma and the urine. The liver of these patients is capable of maintaining normal concentrations of cystine at a time when the plasma cystine concentration is severely reduced. There is an increase in the methionine concentration of the liver which is reduced to normal concentrations during pyridoxine therapy.
Asunto(s)
Aminoácidos Sulfúricos/metabolismo , Cistationina betasintasa/deficiencia , Homocistinuria/metabolismo , Hidroliasas/deficiencia , Hígado/metabolismo , Piridoxina/uso terapéutico , Cistationina betasintasa/metabolismo , Homocistinuria/tratamiento farmacológico , Homocistinuria/etiología , Humanos , Hígado/efectos de los fármacos , Hígado/enzimología , Masculino , Piridoxina/farmacologíaRESUMEN
A patient who had hereditary tyrosinemia was observed during two illnesses to have characteristics of acute intermittent porphyria with associated hypertension. Metabolic studies revealed elevated levels of urinary aminolevulinic acid but normal levels of porphyrin metabolites associated with, and possibly explained by, decreased red blood cell activity of the zinc-dependent enzyme, aminolevulinic acid dehydratase. Zinc deficiency could not be directly associated with the diminished enzyme activity. The patient's hypertension appeared to be related to increased urinary excretion of catecholamines and to elevated renin activity in peripheral venous blood.