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  • 1
    Electronic Resource
    Electronic Resource
    Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 246-249 
    Details
    ISSN: 1432-1076
    Keywords: Molybdenum cofactor deficiency ; Sulphite oxidase deficiency ; Xanthine dehydrogenase deficiency ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A newborn infant exhibiting seizures and spastic tetraparesis at the age of 1 week was shown to excrete excessive quantities of sulphite, taurine, S-sulphocysteine and thiosulphate, characteristic of sulphite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine combined with a low serum and urinary uric acid was consistent with xanthine dehydrogenase deficiency. Both deficiencies could be established at the enzyme level. The primary defect giving rise to the combined abnormalities is the absence of a molybdenum cofactor, a molybdenum-containing pterin being an essential component of both enzymes. The patient developed a severe neurological syndrome, brain atrophy and lens dislocation and died at the age of 22 months. Attempts at treatment, such as oral administration of ammonium molybdate, sodium sulphate, d-penicillamine, 2-mercaptoethane sulphonic acid, pyridoxine and thiamine did not influence the clinical course.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441412
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  • 2
    Electronic Resource
    Electronic Resource
    Group tests for selective screening of inborn errors of metabolism (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S27 
    Details
    ISSN: 1432-1076
    Keywords: Key words: Chromatographic methods – Amino acids – Organic acids – Purines/pyrimidines – Very long-chain fatty acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Selective screening for inherited metabolic disorders can be performed efficiently by chromatographic techniques. Each technique is suited for a well-defined group of substances present in urine, plasma and CSF. A comprehensive screening programme may involve the analysis of amino acids, organic acids, imidazoles, purines and pyrimidines, oligosaccharides and mucopolysaccharides in urine as well as very long-chain fatty acids in plasma. The experienced laboratory, in close co-operation with a specialized paediatrician, will make a positive diagnosis in 6% of the referred samples, provided a careful selection of the patients is made. Our experience of 10 years of screening revealed 100 different defects; 30% of these were so-called amino acid disorders, 50% organic acidurias and the remaining 20% miscellaneous defects. Chromatographic methods are well suited for the discovery of novel defects. In this respect group screening tests will remain of major importance for the study of inborn errors of metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02138774
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  • 3
    Electronic Resource
    Electronic Resource
    A case of formiminoglutamic aciduria (1981)
    Springer
    European journal of pediatrics 136 (1981), S. 319-323 
    Details
    ISSN: 1432-1076
    Keywords: Formiminoglutamic aciduria ; Histidine metabolism ; Hydantoin-5-propionic acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a boy who excreted massive amounts of formiminoglutamic acid and hydantoin-5-propionic acid in his urine. He was mildly mentally retarded and epileptic, whereas his twin-brother was completely normal. Loading with l-histidine enhanced the excretion of both metabolites. Treatment was attempted with high doses of folic acid and methionine, but both were without effect on the excretion levels.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00443002
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  • 4
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid (1984)
    Springer
    European journal of pediatrics 141 (1984), S. 153-157 
    Details
    ISSN: 1432-1076
    Keywords: Glutaric acid ; Dicarboxylic acids ; Amniotic fluid ; Prenatal diagnosis ; Glutaric aciduria type II
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A method for the measurement of dicarboxylic acids in amniotic fluid was developed that utilizes isolation of the acids by liquid partition chromatography and quantification by ammonia chemical ionization selected ion monitoring, gas chromatography-mass spectrometry. The concentrations of dicarboxylic acids in ten normal samples of amniotic fluid (μmol/l±1 S.D.) were glutaric acid 0.91±0.15, adipic acid 0.33±0.08, suberic acid 0.27±0.08, and sebacic acid 0.21±0.10. A highly elevated concentration of 14.48 μmol/l glutaric acid was found in the amniotic fluid of a pregnancy in which the fetus was affected with glutaric aciduria type II. Adipic, suberic and sebacic acids were also significantly elevated. The dicarboxylic acids were normal in the amniotic fluid of a pregnancy at risk for glutaric aciduria type II in which the fetus was unaffected. This method is suitable for the rapid prenatal diagnosis of glutaric aciduria types I and II and of potential value for the prenatal diagnosis of other inherited disorders in which dicarboxylic acids accumulate.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00443213
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  • 5
    Electronic Resource
    Electronic Resource
    Systemic carnitine deficiency: Benefit of oral carnitine supplements vs. persisting biochemical abnormalities (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 224-228 
    Details
    ISSN: 1432-1076
    Keywords: Carnitine deficiency ; Liver ; Dicarboxylic aciduria ; Fasting test ; Fatty acid oxidation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient is described who was admitted with a condition similar to the Reye syndrome at the age of 9 months. Hypoglycemia, hyperammonemia, hepatomegaly, and lethargy were present. The plasma concentrations of free and acylcarnitine were extremely low and the urine contained excessive amounts of dicarboxylic acids. Extensive biochemical and histological investigations of biopsied liver and muscle led to the diagnosis of systemic carnitine deficiency. The patient was put on oral carnitine treatment, upon which he remained clinically well. A prolonged fasting test during this treatment gave abnormal results: there was no ketonemia, but an increase of ω-oxidation of fatty acids. In spite of the treatment the liver and muscle carnitine content remained below normal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442456
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  • 6
    Electronic Resource
    Electronic Resource
    3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 76-82 
    Details
    ISSN: 1432-1076
    Keywords: 3-Methylglutaconic aciduria ; 3-Methylglutaric aciduria ; 3-Methylglutaconyl-coenzyme A hydratase ; Phenotype ; Psychomotor retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 3-Methylglutaconic aciduria has been found in two distinct syndromes. In one there is deficient activity of 3-methylglutaconyl coenzyme A hydratase, and the only clinical manifestation observed has been retardation of speech development. In the other, which includes a majority of the patients studied, we document that the activity of this enzyme in fibroblast extracts is normal. The phenotype of this disorder is one of profound neurological impairment with retarded psychomotor development, hypotonicity and/or spasticity, convulsions or EEG abnormalities, and sensorineural changes in the eye and ear.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441821
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  • 7
    Electronic Resource
    Electronic Resource
    Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 196-197 
    Details
    ISSN: 1432-1076
    Keywords: Sulphite ; Sulphite oxidase ; S-sulphocysteine ; Hypotonia ; Psychomotor retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present the clinical and biochemical data of a patient with infantile isolated sulphite oxidase deficiency with late onset of symptoms. A comparison of the biochemical parameters is made with the neonatal type of this disease and with the data of described patients with the combined defect of sulphite oxidase and xanthine oxidase, due to molybdenum cofactor deficiency. False-negative sulphite dip stick test as a pitfall in the diagnosis of sulphite oxidase deficiency is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01963565
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  • 8
    Electronic Resource
    Electronic Resource
    The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 291-291 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955535
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  • 9
    Electronic Resource
    Electronic Resource
    Holocarboxylase synthetase deficiency: Early diagnosis and management of a new case (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 446-449 
    Details
    ISSN: 1432-1076
    Keywords: Holocarboxylase synthetase deficiency ; Multiple carboxylase deficiency ; Organic aciduria ; Biotin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present a new case of holocarboxylase synthetase (HCS) deficiency, a rare autosomal recessive metabolic disorder, causing the “early-onset” form of multiple carboxylase deficiency. The patient was born at term of healthy consanguineous parents after an uncomplicated pregnancy. On the 2nd day of life she refused oral feeding, became tachydyspnoeic and showed excessive weight loss. Laboratory studies showed metabolic acidosis, marked lactic acidaemia, hyperammonaemia and increased urinary excretion of 3-hydroxyisovaleric acid, 3-methylcrotonyglycine, 3-hydroxypropionic acid and methylcritric acid. Peritoneal dialysis combined with oral supplementation of biotin (10 mg/day) started on the 3rd day of life resulted in rapid clinical recovery and normalisation of biochemical parameters. HCS deficiency was established in lymphocytes and skin fibroblasts. The activities of all biotin-dependent carboxylases were severely decreased in fibroblasts grown in medium with moderate biotin concentration (10−8 mol/l) but normal in a high biotin medium (10−5 mol/l). Mitochondrial carboxylase activities in lymphocytes were 23%–29% of mean normal during therapy with 20 mg of biotin/day, with the higher dose of 40 mg/day they were within (3-methylcrotoryl-CoA carboxylase, pyruvate carboxylase) or slightly below (propionyl-CoA carboxylase) the normal range. At the age of 3 years the patient's physical and psychomotor development are normal. Early biotin supplementation should be considered in newborns with lactic acidosis and organoaciduria until a final diagnosis has been established. Furthermore, the required individual dose of biotin has to be carefully evaluated biochemically for the individual patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955908
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  • 10
    Electronic Resource
    Electronic Resource
    Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 665-670 
    Details
    ISSN: 1432-1076
    Keywords: 3-Methylglutaconic aciduria ; 3-Methylglutaconyl-CoA hydratase ; Cardiac hypertrophy ; Complex I ; Cytochrome c oxidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. Estimation of 3-methylglutaconyl-CoA hydratase, 3-hydroxy-3-methylglutaryl-CoA lyase and initial enzymatic steps of cholesterol biosynthesis in cultured fibroblasts and in different tissues postmortem revealed no enzyme deficiency. Analyses of the respiratory chain in postmortem tissues demonstrated severe impairment of complex I (NADH ubiquinone oxidoreductase) and complex IV (cytochrome c oxidase) activities in skeletal muscle and reduced complex IV activity in heart.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955244
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