RESUMO
3-Amino-2-piperidone, a delta-lactam of ornithine, has been detected in the urine of a number of patients with hyperornithinemia. The distinctive yellow colour formed with a ninhydrin-cadmium reagent should help in the detection of hyperornithinemia by urinary chromatography.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/urina , Ornitina/sangue , Piperidinas/urina , Piperidonas/urina , Adolescente , Adulto , Criança , Cromatografia por Troca Iônica , Cromatografia em Papel , Cromatografia em Camada Fina , Eletroforese , Feminino , Humanos , LactenteRESUMO
An application of computer graphics is described which enables quantitative plasma amino reports to be presented pictorially in a way which enhances the quality of the information.
Assuntos
Aminoácidos/sangue , Gráficos por Computador , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Valores de ReferênciaRESUMO
Increased urinary levels of N-carbamoyl-beta-alanine, and also, on occasions, of N-carbamoylaspartate, were observed in patients with ornithine carbamoyl-transferase (EC 2.1.3.3) deficiency, argininosuccinate synthetase (EC 6.3.4.5) deficiency and argininosuccinate lyase (EC 4.3.2.1)deficiency, but not in a patient with carbamoylphosphate synthase deficiency. The relevance of these findings to the diagnosis of urea cycle defects is discussed.
Assuntos
Argininossuccinato Sintase/deficiência , Acidúria Argininossuccínica , Carbamatos/urina , Ligases/deficiência , Liases/deficiência , Doença da Deficiência de Ornitina Carbomoiltransferase , Ureia/metabolismo , Alanina/análogos & derivados , Alanina/urina , Ácido Aspártico/análogos & derivados , Ácido Aspártico/urina , Criança , Pré-Escolar , Cromatografia em Papel/métodos , Cromatografia em Camada Fina/métodos , Humanos , Recém-NascidoRESUMO
A complete absence of plasma carnosinase activity was observed in a series of patients with proven urea cycle defects. This finding could not be explained by age of patients, low protein intake, or inhibition of the enzyme by glutamine or carbamyl phosphate.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Dipeptidases/sangue , Adulto , Carbamoil-Fosfato/sangue , Carnosina , Criança , Pré-Escolar , Dieta Vegetariana , Dipeptidases/antagonistas & inibidores , Glutamina/sangue , Humanos , Lactente , Ureia/metabolismoRESUMO
Increased plasma and urine levels of pyroglutamic acid were found in 4 patients being fed the low-lactose food Nutramigen. Pyroglutamic acid was detected and estimated by a variety of methods, and the merits of the techniques used and their application in a screening programme are discussed.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/metabolismo , Carboidratos da Dieta , Lactose/farmacologia , Pirrolidinonas/metabolismo , Ácido Pirrolidonocarboxílico/metabolismo , Cromatografia Gasosa , Cromatografia por Troca Iônica , Cromatografia em Papel , Cromatografia em Camada Fina , Creatinina/urina , Estudos de Avaliação como Assunto , Humanos , Lactente , Masculino , Métodos , Ácido Pirrolidonocarboxílico/sangue , Ácido Pirrolidonocarboxílico/urinaAssuntos
Erros Inatos do Metabolismo dos Carboidratos , Frutose/sangue , Glicemia/análise , Peso Corporal , Erros Inatos do Metabolismo dos Carboidratos/metabolismo , Dióxido de Carbono/sangue , Feminino , Frutose/urina , Frutose-Bifosfato Aldolase/metabolismo , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Jejuno/enzimologia , Testes de Função Renal , Fígado/enzimologia , Testes de Função Hepática , Magnésio/sangue , Masculino , Fosfofrutoquinase-1/metabolismo , Fósforo/sangue , Potássio/sangue , Sacarose/metabolismoAssuntos
Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Aminoácidos/metabolismo , Amônia/metabolismo , Arginina/metabolismo , Succinatos/metabolismo , Aminoácidos/sangue , Aminoácidos/líquido cefalorraquidiano , Aminoácidos/urina , Arginina/urina , Estabilidade de Medicamentos , Humanos , Ornitina Carbamoiltransferase/metabolismo , Succinatos/urina , Fatores de TempoAssuntos
Erros Inatos do Metabolismo dos Aminoácidos/urina , Arginina/metabolismo , Arginina/urina , Succinatos/metabolismo , Succinatos/urina , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Autoanálise , Bário , Cromatografia por Troca Iônica , Cromatografia em Papel , Eletroforese em Papel , Feminino , Heterozigoto , Homozigoto , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-IdadeAssuntos
Erros Inatos do Metabolismo/diagnóstico , Ureia/metabolismo , Aminoácidos/sangue , Aminoácidos/urina , Amônia/sangue , Amônia/urina , Argininossuccinato Sintase/deficiência , Carbamoil-Fosfato Sintase (Amônia)/deficiência , Humanos , Concentração de Íons de Hidrogênio , Erros Inatos do Metabolismo/metabolismo , Doença da Deficiência de Ornitina Carbomoiltransferase , Pirimidinas/urina , Ureia/urinaRESUMO
By relating the increase in glutamine to the corresponding increase in valine following protein loading it has been possible to detect carriers of OCT deficiency.
RESUMO
Panax ginseng occupies an important place among the tonic remedies of Oriental medicine. Pharmacological investigations show that crude ginsenosides can increase non-specific resistance of an organism to various untoward influences. The effects of purified derived derivatives have only recently become better studied in immunological and cell growth studies in animals and in man. This has now provided some evidence to suggest that ginseng is a drug that contains many derivatives with different pharmacological properties, which could be useful in clinical medicine.
Assuntos
Medicamentos de Ervas Chinesas/uso terapêutico , Panax , Plantas Medicinais , Animais , Fadiga/tratamento farmacológico , Humanos , Ativação Linfocitária/efeitos dos fármacos , Camundongos , RatosRESUMO
We studied conditions affecting a colorimetric assay of total orotic acid (orotic acid plus orotidine) in urine. Most interfering substances can be conveniently removed on a small column of cation-exchange resin, and an improved control reaction corrects for residual background color. Analytical recovery from urine is nearly complete (greater than 95%) and the absorption spectrum for analyte eluted from the column closely resembles that for an orotic acid standard. We determined reference intervals for total orotic acid, expressed as a molar ratio to creatinine, for neonates, children, and adults, and assessed the effect of age, protein intake, and pregnancy. The method is simple enough to use as a reliable and accurate urine-screening test.
Assuntos
Ácido Orótico/urina , Uridina/análogos & derivados , Adulto , Fatores Etários , Criança , Pré-Escolar , Colorimetria/métodos , Creatinina/urina , Feminino , Humanos , Concentração de Íons de Hidrogênio , Lactente , Recém-Nascido , Masculino , Uridina/urinaRESUMO
Inactivation of a range of antibiotics acting at different points in the metabolism of the bacterial cell was detected by estimating the MIC and MBC in the presence of liver and other tissue preparations. High temperature treatment and sonication of liver cells increased their ability to inactivate antibiotic action. This treatment would have almost completely destroyed enzyme activity, which was, therefore, not thought likely to be the cause of the phenomenon. The loss of antibiotic activity may be related to "protein binding" and a dialysis experiment showed that penicillin binding with liver homogenate was very much greater than with human albumin. It may be that increased disruption of tissue cells by physical methods exposes more active binding sites which reduces the bioavailability of antibiotics. Some degree of binding specificity was indicated in experiments in which DNA was shown to block antibiotics acting primarily on DNA--related synthesis and RNA blocked antibiotics acting on RNA--related metabolism. Suggestions are made for the cause of failure of antibiotic treatment in certain clinical situations.
Assuntos
Antibacterianos/metabolismo , Bactérias/efeitos dos fármacos , Fígado/metabolismo , Animais , Antibacterianos/farmacologia , Bactérias/metabolismo , Disponibilidade Biológica , Células Cultivadas , DNA/farmacologia , Diálise , Temperatura Alta , Humanos , Fígado/citologia , Testes de Sensibilidade Microbiana , Ligação Proteica , RNA/farmacologia , Albumina Sérica/metabolismoRESUMO
Lysine-ketoglutarate reductase was purified 675-fold from bovine liver mitochondria. Product inhibition studies gave results similar to those reported for this enzyme extracted from other sources. Inhibition studies with L-citrulline exhibited mixed inhibition patterns. No inhibition of the partially-purified enzyme by ammonium salts was detected; in contrast, marked inhibition of the enzyme by ammonium was apparently observed in crude liver homogenates. This was probably due to depletion of NADPH and/or 2-oxoglutarate in the assay mixture as a result of conversion of ammonium to glutamate by glutamate dehydrogenase. A similar explanation could account for the high levels of lysine observed in humans with urea cycle disorders.
Assuntos
Amônia/farmacologia , Citrulina/farmacologia , Lisina/análogos & derivados , Mitocôndrias Hepáticas/enzimologia , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/antagonistas & inibidores , Sacaropina Desidrogenases/antagonistas & inibidores , Animais , Bovinos , Humanos , Lisina/farmacologia , Ratos , Sacaropina Desidrogenases/isolamento & purificação , Especificidade da EspécieRESUMO
We report here the results of a study of three unrelated patients, K., M. and R., each of whom died in the neonatal period in St Sophia's Children's Hospital, Athens, Greece, after a normal pregnancy and delivery. Liver functions tests and blood cultures gave normal results in each case and autopsy did not reveal any specific findings. All had gross hyperammonaemia and were considered to have possible urea cycle defects.
Assuntos
Amônia/sangue , Doenças do Recém-Nascido/sangue , Aminoácidos/sangue , Autopsia , Feminino , Humanos , Recém-Nascido , Lactatos/análise , Masculino , Ácido Metilmalônico/sangue , Ureia/metabolismoRESUMO
The biochemical response to an intravenous alanine load of 0.25 g/kg was studied in nine adult female relatives of children with ornithine carbamoyltransferase deficiency. Six were classified as affected by partial deficiency and three as unaffected. The plasma ammonium concentration showed no change after the alanine load in the unaffected group, but marked increases occurred in all but one of the affected groups. The maximum rate of urea synthesis after the alanine load was decreased by 37% (P = 0.02) and delayed by 43% (P = 0.02) in the affected group. In the affected group a low rate of urea synthesis was associated with high urinary orotate excretion, high maximum plasma ammonium concentration and delay in the time taken to reach the maximum rate of urea synthesis (Kendall concordance W = 0.55, P less than 0.05). The effects of a higher dose of alanine and of oral protein were compared. The alanine load of 0.25 g of alanine/kg body weight was shown to provide an adequate stimulus to urea synthesis with a more rapid return of ammonium concentration to the pre-load level than with the protein load. The implication of these results in determining the distribution of flux control of urea synthesis, the discrepancy between them and predicted results and the necessary modifications to quantitative simulations are discussed.
Assuntos
Doença da Deficiência de Ornitina Carbomoiltransferase , Ureia/biossíntese , Alanina/farmacologia , Amônia/sangue , Criança , Feminino , Humanos , Cinética , Masculino , Ácido Orótico/urinaRESUMO
A method is described by which the rate of synthesis of urea can be calculated from the change of plasma concentration of urea after an alanine load. The results can be expressed in terms of f, the maximum increase in the rate of urea synthesis, and t, the time at which urea synthesis reaches its maximum. These parameters are calculated by an algebraic curve-fitting technique which is suitable for a desk computer. The method removes the need for isotopic analysis and urine collections. The effect of various errors and experimental conditions on the calculated synthesis parameters is investigated.