A syndrome of seizures and pervasive developmental disorder associated with excessive cellular nucleotidase activity.
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5'-Nucleotidase↗
Biomedical subjects
W Nyhan
Publications and source records attributed to W Nyhan.
Supplementation of an elemental enteral diet with alanyl-glutamine decreases bacterial translocation in burned mice.
Although there are many reports of the importance of early enteral feeding in maintaining gastrointestinal integrity and preventing bacterial translocation (BT) following burn injury, no diet has been shown clinically to protect the GI tract postburn. Several studies suggest that glutamine (GLN) may benefit gut integrity following injury, shock and other stress. Unfortunately, the free amino acid GLN is unstable in solution. Alanyl-glutamine (ALA-GLN), a soluble form of GLN, maintains long-term stability in solution and could be supplemented to conventional liquid enteral diets. We studied the effects of ALA-GLN supplementation of the elemental diet Vivonex TEN on effecting BT in mice following 32 per cent TBSA full skin thickness burns. Groups A-D were burned. Group A (30 mice) was fed standard rodent chow, which contains extremely high (clinically non-useable) levels of protein. Group B (51 mice) was fasted 24 h, then fed chow 24 h. Group C (64 mice) was fed Vivonex TEN, and Group D (65 mice) received Vivonex TEN plus ALA-GLN (GLN equivalent, 14 g/l). A control group (Group E) consisted of 22 normal mice (no burn injury, chow diet). Mice were assessed for BT by sterile harvesting and plating of mesenteric lymph node tissue, 48 h postburn. Plates were considered positive if any bacterial growth was noted. Non-burned mice exhibited no BT, while burn-fasted mice showed a 64.3 per cent incidence of BT (P = NS).(ABSTRACT TRUNCATED AT 250 WORDS)
Animals↗
Immunoextraction of lipoamide dehydrogenase from cultured skin fibroblasts in patients with combined alpha-ketoacid dehydrogenase deficiency.
Combined deficiency of the pyruvate, alpha-ketoglutarate and branched-chain keto acid dehydrogenase complexes is a rare condition in which activity of lipoamide dehydrogenase is either reduced or grossly deficient. Activities in three cell strains from patients with excretion of branched chain ketoacids and alpha-ketoglutarate and lactic-acidemia showed decreased levels of the three alpha-ketoacid dehydrogenases. Lipoamide dehydrogenase activity was 5% of normal in one cell stain and 50-60% in the other two. Antiserum raised against lipoamide dehydrogenase was used to immunoprecipitate labelled lipoamide dehydrogenase from fibroblasts grown on [35S]methionine. After separation of cell proteins from control fibroblasts by sodium dodecyl sulphate/polyacrylamide gel electrophoresis and fluorography, a prominent 55 kilodalton band was evident in cell extracts treated with the antiserum which corresponded to lipoamide dehydrogenase. In the cell lines from patients with combined alpha-ketoacid dehydrogenase deficiency immunoprecipitation of lipoamide dehydrogenase showed that this protein was present in similar amounts to that seen in control cell lines and was also of the correct molecular weight.
Antibodies, Monoclonal↗
Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells.
Electron microscopy of intramuscular nerves in biopsy material from a child with glycogenosis type III showed massive glycogen accumulation in the Schwann cells of unmyelinated nerve fibers. Other cells, including Schwann cells of myelinated fibers, perineurial cells, endoneurial fibroblasts, endothelial cells, and pericytes, were not similarly affected.
Glycogen↗
Detection of hypoxanthine guanine phosphoribosyl transferase heterozygotes by thin layer chromatography and autoradiography.
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Autoradiography↗
Southern analysis of the Lesch-Nyhan locus in man.
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Cloning, Molecular↗
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity.
Three siblings presented in early childhood with central-nervous-system (CNS) dysfunction, candida dermatitis, keratoconjunctivitis, and alopecia. Two were studied immunologically and had absent delayed-hypersensitivity skin-test responses and absent in-vitro lymphocyte responses to candida antigen. One of them had selective IgA deficiency and no antibody response to pneumococcal polysaccharide immunisation, and the other had a subnormal percentage of T lymphocytes in peripheral blood. The first two siblings died with progressive CNS deterioration and overwhelming infection. The third child, who presented with a periorificial candida dermatitis, alopecia, keratoconjunctivitis, and intermittent ataxia at eighteen months of age, had intermittent lactic acidosis and raised excretion of beta-hydroxyproprionate, methylcitrate, beta-methylcrotonylglycine, and beta-hydroxyisovalerate in urine. After four days of oral biotin, 10 mg/per day, the metabolites in her urine were significantly reduced, suggesting a biotin-responsive multiple carboxylase deficiency. These findings, taken with previous reports of immune defects in patients with disorders of branched-chain aminoacid catabolism, suggest a new biochemical basis for primary immunodeficiency disease.
Alopecia↗
Citrullinemia.
The pathological findings in two cases of neonatal citrullinemia are reported. One patient survived for eight months with treatment using alpha keto-analogues of essential amino acids. The untreated patient expired at eight days of age. Necropsy findings in these two cases are compared. The major histopathological changes were present in the brain and liver. They were much less prominent in the treated patient. Changes in a section of rib from the untreated patient were consistent with growth arrest and suggest than damage may occur in utero in neonatal citrullinemia.
Amino Acid Metabolism, Inborn Errors↗
Tyrosinemia associated with perinatal infection with cytomegalovirus.
A premature infant presented with elevated concentrations of tyrosine in blood and urine, evidence of hepatocellular damage, demineralization of the bones, and a renal Fanconi syndrome. This is the clinical picture found in hereditary tyrosinemia. The infant also had a perinatal infection with cytomegalovirus.
Cytomegalovirus Infections↗
Neonatal citrllinemia: treatment with keto-analogues of essential amino acids.
A patient with neonatal onset citrullinemia survived to 8 months of age when treated with a mixture of essential amino acids and their keto-analogues. The initial plasma citrulline concentration was 2.7 mM; the blood ammonia concentration was greater than 500 muM. During the first week of therapy, the blood ammonia concentration became normal and that of plasma citrulline was reduced by almost 50%. It was possible to institute progressive increases in dietary calories and protein; growth and developmetn with resolution of almost all clinical signs of disease ensued. The patient died at 8 months of age after an episode of diarrhea and dehydration, probably of viral origin.
Amino Acid Metabolism, Inborn Errors↗