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  • 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
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    Paper (German National Licenses)
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  • 2
    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
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  • 3
    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
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  • 4
    Electronic Resource
    Electronic Resource
    Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 56-59 
    Details
    ISSN: 1432-1076
    Keywords: Glutaric aciduria type II ; Multiple acyl-CoA dehydrogenase deficiency ; Organic aciduria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two male siblings suffering from a severe form of glutaric aciduria type II were studied. One patient died within one hour after birth, the other at the age of five days. Both patients presented with respiratory distress soon after birth. They had a variety of congenital morphologic abnormalities. One patient's outstanding “sweaty-feet” odour on the second day of life led to organic acid analysis of urine revealing massive lactic, glutaric, and ethylmalonic aciduria along with a high excretion of various other carboxylic acids and glycine conjugates of the branched chain carboxylic acids. The pattern of metabolites in serum and urine as well as results of degradation studies with various substrates in cultured fibroblasts were consistent with a defect in multiple acyl-CoA dehydrogenation. The morphological abnormalities are presented in a subsequent paper.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442081
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  • 5
    Electronic Resource
    Electronic Resource
    Multiple Acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 60-65 
    Details
    ISSN: 1432-1076
    Keywords: Multiple acyl-CoA-dehydrogenation deficiency ; Glutaric aciduria type II ; Congenital polycystic kidneys ; Fatty liver ; Cerebrocortical dysplasia ; Fetopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The post mortem and microscopic findings of two newborn male sibling of Turkish origin suffering from multiple acyl-CoA-dehydrogenation deficiency (glutaric aciduria type II) are reported in detail for the first time. The morphological disease pattern was strikingly identical in both siblings: enlarged bilateral polycystic kidneys, symmetric warty dysplasia of the cerebral cortex, and bile duct hypoplasia, cholestasis, siderosis and fatty degeneration of the liver were found in both infants. In addition, features of Potter syndrome (pulmonary hypoplasia and ‘Potter face’) were observed only in sibling I, and focal hypoplasia and dysplasia of pancreatic ducts only in sibling II. It appears to be a rather remote chance that the rare metabolic disorder accidently coincided with the equally rare developmental abnormality in both siblings. We believe it to be more likely that both conditions are pathogenetically related in that the accumulation of large quantities of carboxylic acids exerted their effect already in intrauterine life, probably leading to cellular damage and secondary developmental defects of the fetal kidneys, liver, pancreas and brain. From the nature of the observed morphological alterations we speculate that the injury did not occur until after cessation of organogenesis during the fetal period of intrauterine development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442082
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  • 6
    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: Key words 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 excretion. 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. Conclusion Isolated MCC deficiency of early-onset is a rare condition exhibiting a more severe clinical course than the later-onset form described in most other cases. The prognostic value of 3 HIVA measurements in CSF and serum should be evaluated in future cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957906
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  • 7
    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
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    Paper (German National Licenses)
    Fulltext
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