47 Result(s)
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Article
Quantitative determination of aldehydes and ketones in metabolic disorders
The excretion of ketones other than acetone has been described in a few reports of patients with the ketotic hyperglycinemia syndrome. Our unexpected finding of butanone, 2-and 3-pentanone in the urine of Gomp...
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Article
Methylmalonic acidemia (MMA):Enzymatic studies in 5 non-related patients
MMA may be caused by at least three different enzyme defects: l)Defect of methylmalonyl-CoA(MMCoA)mutase-apoenzyme; 2)Defective metabolism or transport of the coenzyme of MMCoA mutase, 5'-deoxyadenosylcobalami...
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Article
γ-Glutamyltranspeptidase in the Rat Liver after Portacaval Shunt
Extract: γ-Glutamyltranspeptidase (GGTP) activity was studied in livers of rats submitted to an end-to-side portacaval shunt (PCS) and in develo** animals. To correlate the evolution of the enzymatic activit...
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Article
Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels
An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. “Ketotic hyperglycinemia” was diagnosed when she was 3 years old. ...
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Chapter and Conference Paper
Quality Control Trial in a Screening Laboratory
The International Federation of Clinical Chemistry (IFCC) defines quality control (QC) as the study of those errors that are the responsibility of the laboratory and the procedures used to recognize and minimi...
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Article
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias
Orotic acid excretion in urine is increased in ornithine transcarbamylase deficiency, citrullinemia and argininemia; it is barely increased in argininosuccinic aciduria and normal in carbamylphosphate syntheta...
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Article
Confidence limits for the incidence of metabolic disorders screened in Switzerland
The incidence of rare disorders in the population is usually indicated in the literature by a rate, without any confidence limits added. Using data of the Swiss screening program for metabolic disorders in new...
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Article
Neonatal mass screening for metabolic disorders
The present situation of neonatal mass screening for metabolic disorders in eleven European countries is presented. The only disease screened for on a population wide basis in almost all countries is phenylket...
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Article
Glucose metabolism in a child with 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency
A child with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency suffered from fasting hypoglycaemia and impaired ketone body formation.
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Article
Incidence of disorders tested by systematic screening: Confidence limits and comparison of programmes
Using the data from screening done in Switzerland since 1965, we showed that the probability of finding cases with increased phenylalanine or leucine concentrations is compatible with a Poisson distribution. I...
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Article
Carbamyl phosphate synthetase deficiency with lethal neonatal outcome
A neonate with pronounced hyperammonaemia died at the age of 6 days. Absence of liver carbamyl phosphate synthetase activity was demonstrated. This is the eighth reported patient with a severe variant of isola...
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Chapter
Organic Acids in Urine: Sample Preparation for GC/MS
A rapid diagnosis is important for the successful treatment of organic acidurias. The determination of organic acids in urine is usually done by gas chromatography, preferably coupled with mass spect-rometry (...
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Chapter
Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency
Multiple carboxylase deficiency (MCD) is characterized by decreased activities of the biotin-dependent carboxy-lases and a specific urinary organic acid pattern. The early-onset form is due to a defect of holo...
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Article
Increase of Tryptophan and 5-Hydroxyindole Acetic Acid in the Brain of Ornithine Carbamoyltransferase Deficient Sparse-Fur Mice
Summary: Sparse-fur mice, 28 d of age with the x-chromosomal inherited defect of ornithine carbamoyltransferase, were used to investigate if tryptophan and the serotonin pathway in the brain are affected in th...
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Article
Biotinidase deficiency: Clinical course and biochemical findings
The biotin responsive late-onset multiple carboxylase deficiency (McKusick 25327) has recently been shown to be due to biotinidase deficiency (EC 3.5.1.12; Wolfet al., 1983a). This affects the regeneration of bio...
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Article
Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test
A Turkish boy had suffered since the age of 10 months from recurrent attacks of severe metabolic acidosis and hypoglycaemia precipitated by moderate respiratory tract infections. A liver biopsy showed lack of ...
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Article
Rett syndrome revisited: A patient with biotin dependency
A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied. Primary defects of urea cycle enzymes were excluded as causes of the disorder. The analysis of urinary organic acids ...
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Article
Biotinidase deficiency: metabolites in CSF
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Article
61 PRENATAL DIAGNOSIS OF MEVALONIC ACIDURIA BY STABLE ISOTOPE DILUTION GCMS
Prenatal diagnosis of the organic acidurias that are life threatening or cause mental retardation is an important part of genetic counseling and may permit prenatal therapy. Eight different organoacidopathies ...
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Article
92 LONG TERM USE OF D-HYDROXYBUTYRATE (DOHB) IN THE MANAGEMENT OF A PATIENT WITH 3-HYDROXY-3-METHYLGLUTARYL CoA (HMGCoA) LYASE DEFICIENCY
Patients with inherited HMGCoA lyase deficiency show severe nonketotic hypoglycemia, acidosis and typical organic aciduria. In addition they are unable to produce adequate amounts of ketone bodies since the HM...
