RESUMO
The molecular nature of the glycine cleavage system was investigated in eight patients with typical (neonatal) and two patients with atypical (late onset) nonketotic hyperglycinemia (NKH). The overall activity of the glycine cleavage system was found to be decreased in all of the liver and brain tissue studied, but it was undetectable or extremely low in typical NKH, whereas there was some residual activity in atypical NKH. Six patients with typical NKH had a specific defect in the P protein, and one a defect in the T protein; the activity of the T protein was defective in one patient with atypical NKH.
Assuntos
Aminoácido Oxirredutases/metabolismo , Proteínas de Transporte/metabolismo , Glicina/sangue , Hidroximetil e Formil Transferases , Erros Inatos do Metabolismo/sangue , Complexos Multienzimáticos/metabolismo , Transferases/metabolismo , Aminometiltransferase , Encéfalo/enzimologia , Glicina/líquido cefalorraquidiano , Humanos , Lactente , Recém-Nascido , Fígado/enzimologia , Erros Inatos do Metabolismo/líquido cefalorraquidiano , Fenótipo , Transtornos Psicomotores/sangueRESUMO
A 12-year-old boy with recurrent skin ulceration, chronic generalized lymphedema, and mild mental retardation was found to excrete massive amounts of dipeptides, most (but not all) of which had proline or hydroxyproline as the carboxyl terminal residue. Glycylproline predominated. Prolidase deficiency was demonstrated in red blood cells and in fibroblastic cells. Prolidase activity was present in continuous lymphoid cell cultures at the same low level observed in control cells.
Assuntos
Aminoácidos/urina , Dipeptidases/deficiência , Dipeptídeos/urina , Linfedema/metabolismo , Úlcera Cutânea/metabolismo , Criança , Doença Crônica , Eritrócitos/enzimologia , Fibroblastos/enzimologia , Humanos , Leucócitos/enzimologia , Linfedema/enzimologia , Masculino , Recidiva , Úlcera Cutânea/enzimologiaRESUMO
A common form of chondrodysplasia punctata has been defined by characteristic clinical and radiologic features in 23 patients seen in Melbourne. The patients presented during infancy because of failure to thrive, apparent mental retardation, and/or unusual appearance. The typical facies is almost diagnostic, and the diagnosis is completed by finding punctate calcification in the calcaneum in lateral radiographs of the feet, and sometimes in other sites. Growth and developmental progress improved during childhood and the final outcome seems likely to comprise low normal height and intelligence with persistence of typical facies. Mild cases probably pass unrecognized at present. Seventeen patients were male. Paternal age was significantly increased; however, family data did not support a genetic cause. Illnesses during pregnancy were unusually frequent, and anticonvulsants taken during pregnancy may have had an etiologic role in some patients.
Assuntos
Osteocondrodisplasias/diagnóstico , Adulto , Anticonvulsivantes/efeitos adversos , Calcâneo/diagnóstico por imagem , Criança , Pré-Escolar , Face , Feminino , Transtornos do Crescimento/complicações , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Masculino , Idade Materna , Deformidades Adquiridas Nasais , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/etiologia , Idade Paterna , Gravidez , Complicações na Gravidez , RadiografiaAssuntos
Amônia/sangue , Hemorragia/etiologia , Pneumopatias/etiologia , Carbamoil-Fosfato Sintase (Amônia)/deficiência , Hemorragia/sangue , Hemorragia/enzimologia , Humanos , Recém-Nascido , Pneumopatias/sangue , Pneumopatias/enzimologia , Masculino , Doença da Deficiência de Ornitina CarbomoiltransferaseRESUMO
Studies of eight patients with this syndrome confirm the characteristic pattern of abnormalities and the autosomal recessive mode of inheritance. The incidence is estimated to be approximately 1 in 100,000 live births. The liver lesion proved to be variable, with features of progressive parenchymal damage rather than a developmental defect of small bile ducts as previously suggested. Elevated levels of pipecolic acid were found in blood and urine and may be related to the basic defect.