Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Glyceroluria in healthy adults, mentally ill adults and children selected for metabolic screening
    Amsterdam : Elsevier
    Clinica Chimica Acta 198 (1991), S. 203-207 
    Details
    ISSN: 0009-8981
    Keywords: Glycerol ; Glycerol kinase deficiency ; Inborn errors of metabolism ; Urinary metabolic screening
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(91)90354-F
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria (1979)
    Springer
    European journal of pediatrics 132 (1979), S. 107-114 
    Details
    ISSN: 1432-1076
    Keywords: 3-Methylcrotonylglycin- and 3-hydroxyisovaleric aciduria ; 3-Methylcrotonyl-CoA carboxylase deficiency ; Organic acidurias ; Biotinresponsive organic aciduria ; Convulsions due to metabolic disorders
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract During selective screening for organic acidurias, a 10-week-old girl with muscular hypotonia and recurrent fits was shown to be excreting 3-methylcrotonylglycin and 3-hydroxyisovaleric acid. Besides these metabolites of leucine the presence of small but pathological amounts of propionic and methylcitric acids were demonstrable in her urine, pointing to a defect in the metabolism of biotin. On treatment with biotin (2×5 mg/day) the convulsions stopped at once, her clinical condition improved gradually, and the abnormal metabolites disappeared from the urine. Within 6 weeks the child was discharged in a good general condition without apparent signs of neurological damage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00447377
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Seven years of experience with selective screening for organic acidurias (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 208-210 
    Details
    ISSN: 1432-1076
    Keywords: Screening ; Inborn errors of metabolism ; Organic acidurias ; Propionic acidemia ; Incidence of organic acidurias
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Between 1975 and 1981 nearly 9000 patients with suspected inherited metabolic diseases were investigated by a selective screening procedure including, apart from simple tests for ketone bodies, sugars and SH-containing compounds, high voltage electrophoresis of amino acids as well as gas liquid chromatography and gas liquid chromatography-mass spectrometry of the organic acids. Fifty-two cases with 18 different inborn errors of metabolism were detected. The effectivity index was calculated to be 0.6% or 1 case in about 170 requests. From the presented and from already existing data in the literature the overall incidences for all organic acidurias together and for propionic acidemia separately were appraized to be 1:10000 and 1:50000, respectively. About half of the patients diagnosed by this screening may benefit from the diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442451
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: Long-term outcome in a case with neonatal onset (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 568-572 
    Details
    ISSN: 1432-1076
    Keywords: Isolated 3-methylcrotonyl-CoA carboxylase deficiency ; Inborn errors of metabolism ; Biotin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with early-onset 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency showing a severe clinical course is described. Abnormal eye and head movements suggestive of seizures were noticed soon after birth. Tonic convulsions at the age of 10 weeks led to admission. Urinary organic acid analysis using gas chromatography-mass spectrometry at 3 months of age revealed elevated concentrations of 3-hydroxyisovaleric acid (3HIVA) and 3-methylcrotonylglycine but normal levels of lactate, 3-hydroxypropionate and methylcitrate suggesting isolated MCC deficiency. This was confirmed by enzyme assays in lymphocytes and cultured skin fibroblasts: MCC activity was virtually undetectable whereas activities of propionyl-CoA and pyruvate carboxylases were within the normal range. A low protein (0.8–1.5 g/kg/day) diet supplemented with a leucine-free amino acid mixture resulted in a marked decrease of 3HIVA excretion.l-Carnitine and biotin administration had no effect on the clinical condition or metabolite exretion. Supplementation with glycine resulted in only a temporary fall of 3HIVA excretion and was therefore discontinued.l-Carnitine therapy was reintroduced later because of secondary carnitine deficiency. Compliance with treatment was poor until the age of 27 months resulting in a severe episode with seizures and coma. The general clinical condition of the patient was always good but his psychomotor development was delayed and seizures were not continuously under good control due to poor therapy compliance. The boy is now 10.5 years old and attending a school for children with learning handicaps.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957906
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Propionic acidaemia: clinical, biochemical and therapeutic aspects (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S68 
    Details
    ISSN: 1432-1076
    Keywords: Propionic acidaemia ; Propionyl-CoA carboxylase deficiency ; Skin lesions ; Inborn errors of metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristic findings in this disease. The metabolic pattern found in propionic acidaemia is discussed extensively as are enzymatic findings. Residual activity of propionyl-CoA carboxylase is neither a predictive marker for severity nor for outcome of the disease. Propionate fixation assay were less reliable for confirmation of propionic acidaemia and of no prognostic value. Clinical presentation of the disease is discussed in detail. Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, dehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apathy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) various skin abnormalities have been detected in about 50% of all patients. In 27% “dermatitis acidemica” was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02138781
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia (1978)
    Springer
    European journal of pediatrics 128 (1978), S. 197-205 
    Details
    ISSN: 1432-1076
    Keywords: Propionic acidemia ; Organic acidemias ; Organic acidurias ; Inherited disorders of the metabolism of organic acids ; 2-Methyl-3-oxovaleric acid ; Liver histology in propionic acidemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Nach einer kurzen Erläuterung der biochemischen Grund-lagen wird am Beispiel eines eigenen Falles von Propionacidämie auf die Frühsymptomatik (vermehrte Schläfrigkeit, Muskelhypotonie, Trinkschwäche, Hypothermie, metabolische Acidose, Ketonurie, Erbrechen), die durchgeführten Therapieversuche, die Obduktionsbefunde und auf Urinuntersuchungen mit Hilfe der Gaschromatographie und der Gaschromatographie-Massenspektrometrie eingegangen. Diese Untersuchungen ergaben, daß neben den bei Propionacidämie bekanntermaßen im Urin ausgeschiedenen Metaboliten, wie Propion-, 3-Hydroxypropion- und Methylcitronensäure, auch 2-Methyl-3-oxovaleriansäure, das Kondensationsprodukt zweier Moleküle Propionyl-CoA, in nennenswertem Umfang synthetisiert und im Harn nachgewiesen werden kann.
    Notes: Abstract A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding, hypothermia, metabolic acidosis, ketonuria and vomiting. Investigation by gas chromatography (GC) and gas chromatography-mass spectrometry (GC-MS) revealed the excretion of fairly high amounts of 2-methyl-3-oxovaleric acid, a condensation product of two molecules of propionyl-CoA, as well as the known pathological metabolites such as propionic, 3-hydroxypropionic and methylcitric acids. Among the post mortem findings the histological studies of the liver were the most remarkable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00444305
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...