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  • 1
    Electronic Resource
    Electronic Resource
    Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis (1981)
    Springer
    European journal of pediatrics 137 (1981), S. 203-206 
    Details
    ISSN: 1432-1076
    Keywords: Biotin ; Carboxylase ; Lactic acidosis ; Organicaciduria ; Inborn errors of metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients presented in early childhood with (i) alopecia, skin rashs, and candida dermatitis, (ii) severe hypotonia, ataxia and motor retardation, (iii) frequent episodes of ketoacidosis with hyperlactacidemia. Propionic and methylcrotonic aciduria only appeared on high protein diet. Mitochondrial biotin-dependent carboxylase activities were decreased in the liver and leukocytes, but were similar to control values in fibroblasts cultured in a biotin-free medium. In addition, the plasma biotin was found to be significantly lower than in control subjects. These disorders responded to biotin administration, pointing to biotin-dependent multiple carboxylase deficiencies (MCD). Our report stresses the polymorphism of MCD and suggests that MCD could be of two types: impaired vitamin metabolism (absorption, plasma transport), might result in low plasma biotin with generalized MCD involving acetyl CoA carboxylase. Defective mitochondrial holocarboxylase synthetase might lead to a pure mitochondrial MCD, with fibroblastic deficiency and presumably normal biotin metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441318
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  • 2
    Electronic Resource
    Electronic Resource
    Impaired plasmalogen metabolism in infantile Refsum's disease (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 513-514 
    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/BF00441753
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  • 3
    Electronic Resource
    Electronic Resource
    In vivo propionate oxidation as a prognostic indicator in disorders of propionate metabolism (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 408-411 
    Details
    ISSN: 1432-1076
    Keywords: Propionate ; Stable isotope ; Oxidation ; Methylmalonic acidaemia ; Propionic acidaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Biochemical markers such as plasma and urinary metabolite concentrations and in vitro enzyme activity are of limited prognostic value in the most common disorders of propionate metabolism, methylmalonic acidaemia (MMA) and propionic acidaemia (PA). In vivo propionate oxidation was compared with conventional prognostic measures as predictors of clinical severity in seven children with MMA and six with PA. Propionate oxidation was measured using a continuous infusion of [1-13C]propionate and was expressed as the rate of appearance of13CO2 as a percentage of the propionate infusion rate. Children with MMA (mean oxidation 51.2%, range 17.5–91.6,P〈0.05) and with PA (mean oxidation 36.3%, range 3.0–91.1,P=NS) oxidised substantially less propionate than controls (mean oxidation 81.9%, range 69.4–101.0,n=5). Percentage oxidation was a better predictor of the clinical severity score (r=0.75,P〈0.01) than was in vitro enzyme activity, plasma propionate or methylmalonate concentration or urinary metabolite excretion. Studies were repeated after an interval of 1–3 weeks in six of the subjects; the percentage oxidation in each subject was virtually unchanged between studies (coefficient of variation 8.6%). These results suggest that in vivo oxidation measurements using [13C]propionate are both reproducible and prognostically useful in disorders of propionate metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02009661
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  • 4
    Electronic Resource
    Electronic Resource
    The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states (1990)
    Springer
    European journal of pediatrics 150 (1990), S. 80-85 
    Details
    ISSN: 1432-1076
    Keywords: Fasting test ; Fatty acid oxidation ; Hypoketosis ; Hyperketosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 24-h fasting test was performed in 48 control children, in 9 hypoketotic patients with inherited defects of fatty acid oxidation and in 2 hyperketotic patients with inherited defects of ketolysis. The control group was then divided into three age groups on the basis of different adaptation to fasting. Concentrations of blood glucose, lactate, free fatty acids (FFA), 3-hydroxybutyrate, acetoacetate and carnitine were measured after 15 h, 20 h and 24 h of fasting. Significant negative correlations were found in the control group between plasma total ketone bodies (KB) and plasma glucose (P〈0.001), plasma carnitine (P〈0.005) and the amplitude of glycaemic response to glucagon at the end of the fast (P〈0.01). FFA/KB ratio and the product of final fasting values of glucose and ketones were useful to differentiate between hypoketotic or hyperketotic patients and normal subjects. In children with a suspected or definite hyperketotic or hypoketotic disorder, a fasting test must only be performed in healthy patients, in good nutritional condition with non-diagnostic basal biochemical investigations. Carefully supervised fasting should be continued sufficiently to allow ketogenesis and ketolysis to become activated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072043
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  • 5
    Electronic Resource
    Electronic Resource
    The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 55-58 
    Details
    ISSN: 1432-1076
    Keywords: Keywords T8993G mtDNA mutation ; Hypocitrullinaemia ; ATPase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis. Conclusion We suggest giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051009
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  • 6
    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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  • 7
    Electronic Resource
    Electronic Resource
    Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 2-11 
    Details
    ISSN: 1432-1076
    Keywords: Retinitis pigmentosa ; Metabolic disorders ; Lipid metabolism ; Peroxisomal disorders ; Mitochondrial respiratory chain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Retinal degeneration in children occurs in errors of lipid, peroxisomal and mitochondrial (including respiratory chain) metabolism. In this review the most frequent inborn errors of metabolism with retinal degeneration are discussed including abetalipoproteinaemia, classical Refsum disease, neuronal ceroid lipofuscinosis, hydroxydicarboxylic aciduria, Sjögren-Larsson syndrome, infantile Refsum disease, Kearns-Sayre syndrome and gyrate atrophy. These metabolic disorders must be differentiated from those with retinal degeneration but without known metabolic basis. In patients with such a disorder metabolic investigations should be considered whenever atypical manifestations are encountered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02073880
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  • 8
    Electronic Resource
    Electronic Resource
    Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 31-35 
    Details
    ISSN: 1432-1076
    Keywords: Disorders of propionate metabolism ; l-Carnitine ; Propionylcarnitine ; Metronidazole ; 1H NMR spectroscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Propionylcarnitine (PC) excretion has been measured during a clinical trial of metronidazole therapy in two patients with propionic acidaemia and two patients with methylmalonic aciduria. All patients were in good metabolic control and were receivingl-carnitine. While total propionate excretion was reduced by up to 40% in all four patients during metronidazole therapy, the excretion of propionylcarnitine remained largely unchanged. PC comprised up to 80% of total propionate excretion in patients with propionic acidaemia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02115623
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  • 9
    Electronic Resource
    Electronic Resource
    Clinical outcome and long-term management of 17 patients with propionic acidaemia (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 205-210 
    Details
    ISSN: 1432-1076
    Keywords: Propionic acidaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A retrospective study was performed on the clinical outcome and long-term treatment of 17 patients with propionic acidaemia diagnosed during the last 20 years in our hospital. The study group consisted of 12 patients with early onset type of disease and 5 patients with late onset. Seven (41%) patients died, five with early onset and two with late onset. The deceased early onset patients had a median survival of 0.4 years while the deceased late onset patients died at the age of 2.8 and 4 years respectively. Median age of the living early onset patients was 5.2 (1–9.25) years, the late onset patients were 4,7 and 23 years old. Patients were all treated with natural protein restriction and in most cases carnitine and metronidazole were added. The early onset patients were almost all treated with daily home tube feeding. The mean natural protein intake of early onset patients (6.3±1.5 g/day) was significantly lower than the natural protein intake of late onset patients (17.6±5.3 g/day). Supplemental protein intake was higher in early onset patients. The general neurological outcome of our study group was satisfactory with a better outcome for early onset patients. As to growth, many patients showed a failure to thrive, this was particularly for height. The strong protein restriction during the first years of life probably contributed to this. Conclusion The prognosis for patients with propionic acidaemia appeared to be satisfactory in terms of survival and outcome characteristics such as neurological and mental development. Despite these results the authors feel that the prognosis and quality of life of these patients might be improved with liver transplantation or possibly somatic gene therapy in the future.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01953939
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  • 10
    Electronic Resource
    Electronic Resource
    Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 628-633 
    Details
    ISSN: 1432-1076
    Keywords: Key words Hyperinsulinism ; Hypoglycaemia ; Diazoxide ; Sulphonylureas ; Management
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Primary persistent hyperinsulinaemic hypoglycaemia of infancy is rare. Diazoxide treatment remains the mainstay of medical therapy in long-term management. We reviewed 77 cases of primary persistent hyperinsulinism in neonates and infants who were treated with diazoxide and studied criteria predictive of therapeutic efficacy. The only criterion identified was age at manifestation. All but 1 of the 31 neonatal cases were unresponsive to diazoxide. Responsiveness increased with age: 12 of 39 early-infantile cases, and all seven late-infantile cases were diazoxide-responsive. In responders, a diazoxide dose of 10–15 mg/kg per day was always effective, suggesting an “all or none” response. Diazoxide-resistant hyperinsulinism is characterized by its severity with higher plasma insulin levels. The analysis of 46 surgically treated patients showed that the efficacy of diazoxide is not related to the aetiology of the pancreatic lesions. In six cases, after many years of management, diazoxide treatment was stopped without recurrence of hypoglycaemia. Conclusion Diazoxide is an efficient treatment in the long-term management of most persistent hyperinsulinaemic hypoglycaemia of infancy revealed in infants and children but is usually ineffective in neonatal forms. Drug efficacy does not correlate with anatomical lesions. Medical treatment can sometimes be stopped after many years of management without recurrence of disease manifestations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050900
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