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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
    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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  • 4
    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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  • 5
    Electronic Resource
    Electronic Resource
    Infantile Refsum disease: an inherited peroxisomal disorder (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 477-483 
    Details
    ISSN: 1432-1076
    Keywords: Infantile Refsum disease ; Zellweger syndrome ; Neonatal adrenoleukodystrophy ; Peroxisomal disease ; Mental retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441598
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  • 6
    Electronic Resource
    Electronic Resource
    Intellectual and school performances in early-treated classical PKU patients (1987)
    Springer
    European journal of pediatrics 146 (1987), S. A20 
    Details
    ISSN: 1432-1076
    Keywords: Phenylalanine intake ; Diet discontinuation ; Performance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Conclusion We did not observe any loss of mean IQ scores measured at 11 when PKU diet was stopped as early as 5 years of age compared to 8 years. Nevertheless, 44% of these children presented learning disabilities and repeated one or more school years. These difficulties appear before or at early elementary school level and are independent of the age of diet discontinuation between 5 and 8 years. They seem to be related to perceptual motor dysfunction, suggesting the possibility of a specific deficit that could seriously interfere with academic progress but which is not accompanied by obvious impairment of overall intellectual functioning [1, 4–7, 9]. Among the children who repeated at least 1 year, there was a much higher percentage of pupils who repeated 2 or more school years than in the scholar national average population. The most important factor related to these difficulties seems to be the parents' socioeconomic status, which is also correlated with the children's IQ scores. This influence is not due to the quality of the diet, which is roughly similar for all the patients whatever their school performance. PKU seems to amplify learning difficulties already present in unaffected siblings. Whether the difficulties would be avoided by continuing the diet throughout elementary school remains undemonstrated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442051
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  • 7
    Electronic Resource
    Electronic Resource
    Nutritional vitamin B12 deficiency: Two cases detected by routine newborn urinary screening (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 218-220 
    Details
    ISSN: 1432-1076
    Keywords: Vitamin B12 ; Methylmalonic aciduria ; Newborn screening ; Cobalamin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe two asymptomatic newborns with nutritional vitamin B12 deficiency in whom increased urinary methylmalonic acid was detected by routine neonatal screening at 3 weeks of age. Both infants were exclusively breast-fed. One mother suffered from pernicious anaemia, and the other was a strict vegetarian. Both mothers had no clinical or haematological abnormality, aside from a borderline mean corpuscular volume for the vegetarian mother. This report illustrates the early appearance of functional vitamin B12 deficiency in breastfed infants of vitamin B12-depleted mothers. It also demonstrates that urinary methylmalonic acid measurement is a sensitive indicator of tissue vitamin B12 deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954389
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  • 8
    Electronic Resource
    Electronic Resource
    Peroxisomes in several congenital syndromes (infantile refsum's disease, adrenoleukodystrophy, menkes' disease, batten's ceroid lipofuscinosis, GM1 gangliosidosis, a.c.)
    Amsterdam : Elsevier
    Ultramicroscopy 19 (1986), S. 112 
    Details
    ISSN: 0304-3991
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Electrical Engineering, Measurement and Control Technology , Natural Sciences in General , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0304-3991(86)90078-1
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  • 9
    Electronic Resource
    Electronic Resource
    Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor (1985)
    Springer
    Virchows Archiv 405 (1985), S. 379-386 
    Details
    ISSN: 1432-2307
    Keywords: Cerebral lesions ; Sulphite oxidase deficiency ; Xanthine oxidase deficiency ; Molybdenum cofactor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A case of combined deficiency of sulphite-oxidase and xanthine-oxidase with a defect of the molybdenum cofactor, which is vital to the activity of sulphite-, xanthine- and aldehyde-oxidase, is reported here. Seven cases of combined deficiencies have been described with regard to both clinical and laboratory findings. The clinical, laboratory and anatomo-pathological features and, in particular, the central nervous system lesions of the present case correspond exactly to those in the case described Rosenblum in which an isolated deficiency in sulphiteoxidase was present. As the cerebral alterations in the present case are comparable to those described in Rosenblum's case, they probably result from the defect in sulphite-oxidase acitivity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00710072
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  • 10
    Electronic Resource
    Electronic Resource
    Neonatal glutaric aciduria type II: An X-linked recessive inherited disorder (1981)
    Springer
    Human genetics 〈Berlin〉 59 (1981), S. 263-265 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A new case of neonatal glutaric aciduria type II is reported. Neonatal acidosis, hypoglycemia, and hyperammonemia were characteristic. The baby died at four days of age. Organic acid analysis revealed massive glutaric aciduria with elevated concentrations of butyric, isobutyric, n-butyric, and isovaleric acid in his urine. The baby's pedigree suggested strongly an X-linked recessive mode of inheritance. Clinically, biochemically, and genetically glutaric aciduria type II is an heterogeneous disorder. The neonatal form is an X-linked inherited disorder which presents early in life, and is associated with metabolic acidosis, hypoglycemia, and hyperammonemia, and leads to death in the neonatal period. The mild form is an autosomal recessive inherited disease which may present even in adults, and is associated with recurrent hypoglycemia without ketosis and usually improves. Nevertheless the same unusual organic acid pattern is observed in both forms. The basic biochemical defect must be distinct and has not been elucidated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283677
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