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  • 1
    Electronic Resource
    Electronic Resource
    A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 289-291 
    Details
    ISSN: 1432-1076
    Keywords: 3-hydroxy-3-methylglutaryl ; CoA lyase ; Pancreatitis ; Organic acid-uria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A five-year-old-girl with a history of recurrent hypoglycemia presented with acidosis, intractable vomiting, and abdominal tenderness; the diagnosis of acute pancreatitis was made by abdominal ultrasonography and supportive biochemical studies. Urinary organic acid analysis revealed metabolites suggestive of HMG-CoA lyase deficiency, and subsequent enzyme assays of lymphocytes and fibroblasts confirmed this diagnosis. Acute pancreatitis, an uncommon condition in childhood, is seen with increased frequency in patients with Reye syndrome, a metabolic disorder with which HMG-CoA lyase deficiency may be confused. The pathogenesis of pancreatitis in Reye syndrome or in HMG-CoA lyase deficiency has not been determined.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00540255
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  • 2
    Electronic Resource
    Electronic Resource
    Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 250-252 
    Details
    ISSN: 1432-1076
    Keywords: Mevalonate kinase deficiency ; Mevalonic aciduria ; Heterozygote ; Autosomal-recessive inheritance ; Cholesterol bisoynthesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father and a sister, all of whom were clinically well. Mevalonate kinase activity in extracts of cultured skin fibroblasts and transformed lymphoblasts derived from the parents of the patient were 43%–52% of the mean control values. These data are consistent with an autosomal recessive mode of inheritance for mevalonate kinase deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441413
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  • 3
    Electronic Resource
    Electronic Resource
    Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 257-259 
    Details
    ISSN: 1432-1076
    Keywords: 4-hydroxybutyric aciduria ; 4-aminobutyric acid ; Succinic semialdehyde dehydrogenase ; Lymphocyte ; Lymphoblast
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Succinic semialdehyde dehydrogenase deficiency has been demonstrated in a fourth patient with 4-hydroxybutyric aciduria. Lysates of freshly isolated lymphocytes and cultured lymphoblasts of the patient had much lower than control activity in the conversion of U-14C-4-aminobutyric acid to 14C-succinic acid in an assay designed to estimate succinic semialdehyde dehydrogenase utilizing endogenous 4-aminobutyrate transaminase. Lymphocyte and lymphoblast lysates of the patient accumulated U-14C-succinic semialdehyde when incubated with U-14C-4-aminobutyric acid and NAD+ whereas none could be detected in controls. Assays using U-14C-succinic semialdehyde as substrate for succinic semialdehyde dehydrogenase in lysates of cultured lymphoblasts characterized the patient as having a severe deficiency of succinic semialdehyde dehydrogenase. The data indicate that defective activity of succinic semialdehyde dehydrogenase is responsible for 4-hydroxybutyric aciduria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00540247
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  • 4
    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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  • 5
    Electronic Resource
    Electronic Resource
    4-Hydroxybutyric aciduria in a patient without ataxia or convulsions (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 529-531 
    Details
    ISSN: 1432-1076
    Keywords: 4-Hydroxybutyric aciduria ; Succinic semialdehyde dehydrogenase deficiency ; Aminobutyric acid (GABA) metabolism ; Hyperactivity ; Hypotonia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A child presenting with mild psychomotor retardation, hypotonia, microcephaly and hyperkinesis is described. Urinary organic acid analysis by combined gas chromatography-mass spectrometry revealed 4-hydroxybutyric aciduria. Succinic semialdehyde dehydrogenase activity in extracts of white cells derived from the patient was less than 10% of control values.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441983
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  • 6
    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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  • 7
    Electronic Resource
    Electronic Resource
    Neurological manifestations of organic acid disorders (1994)
    Springer
    European journal of pediatrics 153 (1994), S. S94 
    Details
    ISSN: 1432-1076
    Keywords: Organic acid disorders ; Neurological symptoms ; Central nervous system ; Cerebrospinal fluid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the absence of metabolic derangement. Review of the time course and presentation of neurological disease in organic acid disorders reveals characteristic clinical findings of ataxia, myoclonus, extrapyramidal symptoms, metabolic stroke and megalencephaly. A group of organic acid disorders presents exclusively with neurological symptoms. These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria,n-acetylaspartic aciduria (Canavan disease) andl-2-hydroxyglutaric aciduria. As a group these “cerebral” orgamic acid disorders appear to remain often undiagnosed and their true incidence is much less wellknown than that of the “classical” organic acid disorders. Unfortunately, stringent guidelines for a clinical preselection of neuropaediatric patients to be investigated for organic acid disorders cannot be provided. Today, screening for neurometabolic disorders should be as comprehensive as possible and include determinations of amino acids, purines and pyrimidines and markers of peroxisomal function in addition to organic acid analysis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02138786
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  • 8
    Electronic Resource
    Electronic Resource
    3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 180-186 
    Details
    ISSN: 1432-1076
    Keywords: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase ; 3-Hydroxy-3-methylglutaric aciduria ; Hypoglycemia ; Metabolic acidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of leucine catabolism which often leads to life-threatening illness in the neonatal period. The cardinal clinical features include severe infantile hypoglycemia, metabolic acidosis, hepatomegaly, lethargy or coma and apnea. Hyperammonemia is variable. There is a characteristic absence of ketosis. Considerable heterogeneity has been observed in clinical and biochemical presentation. Acute episodes of illness have been mistaken for Reye syndrome. The pattern of organic acids in the urine includes large amounts of 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids. Smaller, but appreciable levels of glutaric, adipic and other dicarboxylic acids may also be excreted in the urine. Lactic acid may be present in sizable amounts at times of acute illness. The primary defect is a deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A lyase, a key enzyme in the cycle of ketogenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441397
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  • 9
    Electronic Resource
    Electronic Resource
    Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 466-466 
    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/BF01959366
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  • 10
    Electronic Resource
    Electronic Resource
    Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase (2002)
    Oxford, UK : Blackwell Science, Ltd
    Journal of neurochemistry 81 (2002), S. 0 
    Details
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Metabolite profiling in succinate semialdehyde dehydrogenase (SSADH; Aldh5a1–/–) deficient mice previously revealed elevated γ-hydroxybutyrate (GHB) and total GABA in urine and total brain and liver extracts. In this study, we extend our metabolic characterization of these mutant mice by documenting elevated GHB and total GABA in homogenates of mutant kidney, pancreas and heart. We quantified β-alanine (a GABA homolog and putative neurotransmitter) to address its potential role in pathophysiology. We found normal levels of β-alanine in urine and total homogenates of mutant brain, heart and pancreas, but elevated concentrations in mutant kidney and liver extracts. Amino acid analysis in mutant total brain homogenates revealed no abnormalities except for significantly decreased glutamine, which was normal in mutant liver and kidney extracts. Regional amino acid analysis (frontal cortex, parietal cortex, hippocampus and cerebellum) in mutant mice confirmed glutamine results. Glutamine synthetase protein and mRNA levels in homogenates of mutant mouse brain were normal. We profiled organic acid patterns in mutant brain homogenates to assess brain oxidative metabolism and found normal concentrations of Kreb's cycle intermediates but increased 4,5-dihydroxyhexanoic acid (a postulated derivative of succinic semialdehyde) levels. We conclude that SSADH-deficient mice represent a valid metabolic model of human SSADH deficiency, manifesting focal neurometabolic abnormalities which could provide key insights into pathophysiologic mechanisms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1471-4159.2002.00784.x
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