RESUMO
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B, whose product acts in intracellular trafficking. Arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia define an ARC core phenotype, in some patients associated with ichthyosis, central nervous system malformation, deafness, and platelet abnormalities. We describe a patient with cholestasis, aminoaciduria, ichthyosis, partial callosal agenesis, and sensorineural deafness who, although homozygous for the novel VPS33B mutation 971delA/K324fs, predicted to abolish VPS33B function, did not exhibit arthrogryposis. The phenotypes associated with VPS33B mutation may include incomplete ARC.
Assuntos
Colestase/diagnóstico , Ictiose/diagnóstico , Nefropatias/diagnóstico , Agenesia do Corpo Caloso , Artrogripose/genética , Colestase/genética , Evolução Fatal , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Humanos , Hiperbilirrubinemia/etiologia , Ictiose/genética , Lactente , Nefropatias/genética , Proteínas de Membrana/genética , Mutação , Fenótipo , Aminoacidúrias Renais/diagnóstico , Aminoacidúrias Renais/genética , Síndrome , Proteínas de Transporte VesicularRESUMO
El estudio de las alteraciones del metabolismo de los aminoacidos urinarios ha motivado el desarrollo de dos tecnicas simples, rapidas y economicas, para el uso en Quimica clinica. Se describe la celda electroforetica disenada, asi como todas las operaciones requeridas para lograr dicho objetivo (tratamiento de los soportes usados y de las muestras, buffers, condiciones de corrida, distintos metodos y reactivos de revelado, desintometria). Se comparan los resultados obtenidos para los soportes empleados, papel y acetato de celulosa gelatinizado, usando para ambos igual sistema de refrigeracion y los resultados obtenidos en comparacion con otra forma de enfriamiento del sistema, utilizada previamente. Tambien se discute la aplicacion de mayores voltajes y la importancia de la estandarizacion en la coloracion. Trabajando con acetato de celulosa gelatinizado se pueden valorar por densitometria las corridas, lo cual brinda una util herramienta a los laboratorios clinicos
Assuntos
Recém-Nascido , Humanos , Estudo Comparativo , Eletroforese em Acetato de Celulose/métodos , Eletroforese em Papel/métodos , Aminoácidos/urina , Aminoácidos/análise , Densitometria/métodos , Aminoacidúrias Renais/diagnósticoRESUMO
El estudio de las alteraciones del metabolismo de los aminoacidos urinarios ha motivado el desarrollo de dos tecnicas simples, rapidas y economicas, para el uso en Quimica clinica. Se describe la celda electroforetica disenada, asi como todas las operaciones requeridas para lograr dicho objetivo (tratamiento de los soportes usados y de las muestras, buffers, condiciones de corrida, distintos metodos y reactivos de revelado, desintometria). Se comparan los resultados obtenidos para los soportes empleados, papel y acetato de celulosa gelatinizado, usando para ambos igual sistema de refrigeracion y los resultados obtenidos en comparacion con otra forma de enfriamiento del sistema, utilizada previamente. Tambien se discute la aplicacion de mayores voltajes y la importancia de la estandarizacion en la coloracion. Trabajando con acetato de celulosa gelatinizado se pueden valorar por densitometria las corridas, lo cual brinda una util herramienta a los laboratorios clinicos
Assuntos
Recém-Nascido , Humanos , Aminoácidos/urina , Eletroforese em Acetato de Celulose , Eletroforese em Papel , Aminoácidos/análise , Densitometria , Aminoacidúrias Renais/diagnósticoRESUMO
Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwhelming illness very early in life; both infants died in the neonatal period. One had dysmorphic features. An acrid odor may be a clue to the diagnosis. Neonatal acidosis, hypoglycemia, and hyperammonemia are characteristic. Organic acid analysis revealed massive lactic aciduria and glutaric aciduria. A variety of other dicarboxylic acids and hydroxy acids and amino acids were found in elevated amounts in body fluids, along with elevated concentrations of butyric, isobutyric, 2-methylbutyric, and isovaleric acids. The pattern of metabolites accumulated is consistent with deficient activity of a number of acyl-CoA dehydrogenases.
Assuntos
Glutaratos/urina , Erros Inatos do Metabolismo/urina , Aminoácidos/sangue , Ácidos Dicarboxílicos/sangue , Ácidos Dicarboxílicos/urina , Genes Recessivos , Humanos , Hidroxiácidos/sangue , Hidroxiácidos/urina , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/sangue , Erros Inatos do Metabolismo/genética , Aminoacidúrias Renais/diagnósticoRESUMO
A 7-year-old boy with speech delay, hyperactive behavior, and minor neurologic abnormalities had been found in the past to have "intermittent cystinuria." A more detailed investigation revealed hyperlysinemia and hyperlysinuria, with lesser increases in urinary excretion of arginine and cystine. The plasma and urine abnormalities increased on a diet of 3 gm of protein/kg body weight/day. Saccharopine, a normal metabolite of lysine not found in the body fluids of normal people, was present in plasma, cerebrospinal fluid, and urine of the patient. Lysine-ketoglutarate reductase and saccharopine dehydrogenase activities were not detectable in extracts of cultured skin fibroblasts. Re-examination of the urine of previously studied cases of this double enzyme deficiency suggests that saccharopinuria of variable degree is the rule and not the exception.
Assuntos
Complexo Cetoglutarato Desidrogenase/deficiência , Cetona Oxirredutases/deficiência , Lisina/análogos & derivados , Lisina/sangue , Lisina/urina , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/deficiência , Sacaropina Desidrogenases/deficiência , Células Cultivadas , Criança , Cistinúria/diagnóstico , Deficiências Nutricionais/complicações , Diagnóstico Diferencial , Fibroblastos/enzimologia , Humanos , Lisina/metabolismo , Masculino , Aminoacidúrias Renais/diagnóstico , Pele/ultraestruturaRESUMO
The authors showed that the colorimetric methods used to effect aminoacidopathies screening are inadequate and unspecific. The thin layer chromatography was chosen to effect such screening and the authors showed the incidence in newborns of some aminoacid metabolism abnormalities.