21/50. Adult-onset chorea and dementia with propionic acidemia.propionic acidemia usually presents in the newborn period with severe metabolic acidosis and lethargy. A 31-year-old man with adult onset chorea and dementia had propionic acidemia due to propionyl CoA carboxylase deficiency. Metabolic investigations may prove useful in patients with movement disorder of unknown etiology.- - - - - - - - - - ranking = 1keywords = carboxylase deficiency, carboxylase (Clic here for more details about this article) |
22/50. prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.prenatal diagnosis of propionic acidemia was achieved by the direct assay of propionyl CoA carboxylase in chorionic villi. The diagnosis was confirmed by determination of methylcitrate in amniotic fluid and measurement of propionyl CoA carboxylase in the liver from the abortion. Discrepancy between [14C]-propionate incorporation into protein of chorionic villi or cultured chorionic cells and propionyl CoA carboxylase activity is reported.- - - - - - - - - - ranking = 1.6105309638664keywords = carboxylase (Clic here for more details about this article) |
23/50. Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.Twenty-two patients with inherited hyperammonemic syndromes are presented. These patients represent 22 different families. The diagnosis was based mainly on family history, blood ammonium levels, acid base balance, urinary orotic acid, urinary and plasma amino acids and organic acids. The final diagnosis was confirmed by determination of liver enzyme activity. In 12 patients (54%), the first clinical manifestations were noticed after the neonatal period; 7 patients (31%) were diagnosed after infancy, and 8 (23%) after the age of 8 years. Two patients who represent the late-onset group of inherited hyperammonemic syndromes are presented in detail. The three most common diagnoses were ornithine transcarbamoylase deficiency, carbamoyl phosphate synthetase deficiency, and lysinuric protein intolerance, which comprised 59% of the diagnosed patients. Our data, based on one of the largest series reported, reveal a relatively large percentage of late-onset inherited hyperammonemic syndromes as compared with previous reports.- - - - - - - - - - ranking = 0.001594479634389keywords = late-onset (Clic here for more details about this article) |
24/50. prenatal diagnosis of pyruvate carboxylase deficiency.prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Sufficient amniocytes were cultured in 3-4 weeks for enzyme analysis in two centres. Citrulline concentration in amniotic fluid (AF) was normal in the affected fetus.- - - - - - - - - - ranking = 4.2300758519809keywords = carboxylase deficiency, carboxylase (Clic here for more details about this article) |
25/50. Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts.A new hereditary defect of tryptophan metabolism is described in a Sudanese family with a high degree of consanguinity. It has an autosomal recessive pattern of inheritance. The condition manifests as a pellagra-like skin rash within 8 weeks after birth, with signs of cerebellar ataxia and developmental retardation. Cataracts develop early, and to date none of the ten affected children has survived beyond 2 years of age. Biochemically, the condition is characterized by an apparent impairment of the ability to synthesize quinolinic acid and nicotinamide nucleotides from tryptophan, which might be due to abnormally high activity of the enzyme picolinate carboxylase.- - - - - - - - - - ranking = 0.23007585198092keywords = carboxylase (Clic here for more details about this article) |
26/50. Papilloedema in late-onset citrullinaemia: report of second case.A young adult patient suddenly began to have episodes of unconsciousness that each lasted for several hours. Brief episodes of lethargy occurred monthly. Biochemical tests disclosed high levels of ammonia and citrulline in the serum. brain oedema was suggested by CT scan, and optic disc swelling was observed ophthalmoscopically, indicating papilloedema. He died in coma. Deficient activity of argininosuccinate synthetase in the liver was demonstrated. Papilloedema was confirmed histologically. We believe that papilloedema is a serious sign indicating poor prognosis in late-onset citrullinaemia.- - - - - - - - - - ranking = 0.0039861990859725keywords = late-onset (Clic here for more details about this article) |
27/50. Propionic acidaemia. First case in the Finnish population.Propionic acidaemia is a defect of propionyl-CoA-carboxylase activity characterized by urinary excretion of propionic acid, its metabolites and hyperglycinaemia. The clinical picture of this autosomally, recessively inherited disorder, which has been reported in the literature in 63 patients varies from overwhelming metabolic crisis in the neonate to an almost asymptomatic disease responding to protein restriction and biotin supplementation. The first Finnish patient with propionic acidaemia had a severe type of disease with neonatal onset simulating nonketotic hyperglycinaemia. In spite of protein restriction and biotin supplementation this infant developed progressive psychomotor retardation and died of intercurrent infection at the age of 8.5 months. The definite, correct diagnosis was not reached until a severe infection occurred, during which the pathognomonic organic aciduria manifested. This delay in the diagnosis illustrates the importance of performing the analysis of urinary excretion of organic acids during stress situations, such as infections, since the metabolic block may be undetectable under normal conditions.- - - - - - - - - - ranking = 0.23007585198092keywords = carboxylase (Clic here for more details about this article) |
28/50. argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.A 22 years old female with the late-onset of argininosuccinic aciduria was successfully treated for 5 months with a mixture of essential amino acids and their keto-analogues. There was a marked change in plasma ammonia, plasma amino acids and argininosuccinic acid excretion. A long term anabolic response was reflected by an increase of total serum proteins and serum albumin by about 1 g/dl during the first 5 months of treatment. There was a striking improvement in the patient's seizure disorder following institution of the keto-analogue therapy.- - - - - - - - - - ranking = 0.00079723981719449keywords = late-onset (Clic here for more details about this article) |
29/50. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.A child with a history of episodes of metabolic acidosis was found to excrete 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. These metabolites disappeared following the administration of biotin. The specific activities of propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase were found to be low in skin fibroblasts cultured in the absence of added biotin. With the addition of biotin, the specific activity of all three carboxylases returned to normal, that of 3-methylcrotonyl CoA carboxylase ahowing the greatest sensitivity to biotin.- - - - - - - - - - ranking = 2.0706826678283keywords = carboxylase (Clic here for more details about this article) |
30/50. Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis.A boy with glutaric acidemia had psychomotor retardation first noted at age 6 months, recurrent metabolic acidosis, and a progressive quadriparesis with choreoathetosis. He died at age 3 1/2 years. Cultured skin fibroblasts lacked glutaryl-coa dehydrogenase activity. There was a biochemical, but not a clinical, response to dietary restriction of lysine and tryptophan. The caudate and putamen of the brain showed severe loss of nerve cells and fibers with proliferation of astrocytes, as well as markedly reduced gamma-aminobutyric acid and glutamate decarboxylase activity.- - - - - - - - - - ranking = 0.23007585198092keywords = carboxylase (Clic here for more details about this article) |
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