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  • 1
    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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  • 2
    Electronic Resource
    Electronic Resource
    Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S78 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Positron emission tomography ; Dopamine D2-receptor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Patients with phenylketonuria (PKU) may suffer from cognitive and neurological deficits which are related to reduced intracerebral concentrations of catecholamines. The function of phenylalanine (Phe) as an inhibitor of the uptake of the precursor amino acid tyrosine (Tyr) through the blood-brain barrier as well as an inhibitor of the expression of dopamine receptors in the brain is under investigation. Positron emission tomography (PET) is a method for quantitatively determining biochemical and physiological processes in vivo. In the current pilot study, l-[1-11C]-Tyr and 18F-fluoro-ethyl-spiperone (FESP) have been used. The metabolic pathway of carboxylic labelled Tyr is mainly incorporation into protein. From the measured tissue and plasma activity as a function of time in combination with a compartimental model the Protein Synthesis Rate (PSR) for Tyr can be calculated. FESP is a ligand which binds irreversibly to the dopamine D2-receptor and has also a low non specific binding, although affinity to the serotonin receptor has been described. The ratio of FESP concentration in striatum and in cerebellum is a measure of the receptor status in vivo. In patients with plasma Phe levels above the maximum therapeutic concentration (〉 700 μmol/l) the PSR for Tyr was decreased as compared to controls and patients with plasma Phe concentrations within the therapeutic range, indicating a decreased availability of Tyr for neurotransmitter synthesis, and hence explaining the reduced cerebral concentration of catecholamines.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014257
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  • 3
    Electronic Resource
    Electronic Resource
    The long-term outcome of patients with glycogen storage disease type Ia (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 52-55 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease ; Glucose-6-phosphatase ; Retrospective study ; Long-term outcome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Forty-one patients (16 females and 25 males) over 10 years of age from five different European centres were studied retrospectively. Of those patients 19 were below the 3rd percentile for height. Hypoglycaemia was still reported in 6 patients. Hepatomegaly was present in 39 out of 40, while 11 out of 27 reported patients had marked hepatomegaly (〉10 cm below the costal margin in the midclavicular line). Adenomas were detected in 11 out of 39 patients, α-1-fetoprotein was reported to be within normal limits in a total of 22 patients of whom 6 had adenomas. Blood cholesterol concentration was elevated in 31 out of 38 patients, in 7 greater than 10.0 mmol/l. Blood triglycerides were elevated in 29 out of 34 patients, in 8 patients greater than 4.0 mmol/l. Blood uric acid concentration was elevated in 19 out of 35 patients, 12 of them being treated with allopurinol. Mental development was reported to be normal in 32 out of 37 patients. Since limited information on treatment was available no significant differences between treatment groups could be detected. In order to evaluate the effect of treatment, 20 patients (10 females and 10 males) of one centre were studied before and after at least 5 years of treatment. This treatment consisted of frequent feedings during the day together with nocturnal gastric drip feeding. Patients were divided into responders (n=16) and non-responders (n=4) depending on their (change in) SDS (standard deviation score) for height. Liver adenomas were detected in 3 patients, of which one was a non-responder. Alpha-fetoprotein was normal in all patients. With increasing age a gradual increase in blood lipids and some apolipoproteins could be detected, non-responders tending to have higher concentrations of triglycerides, cholesterol, Apo-CIII and Apo-E. Non-responders had significantly higher “fasting” blood lactate and nocturnal urinary lactate concentrations. Virtually all patients had abnormally elevated glomerular filtration rates, but no significant difference was found between responders and non-responders. Older patients may develop normochromic anaemia. Thrombocyte aggregation was abnormal in 4 out of 16 patients, of which one was a non-responder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072089
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  • 4
    Electronic Resource
    Electronic Resource
    Glycogen storage disease: recommendations for treatment (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 226-228 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease ; Glucose-6-phosphatase ; Glucose-6-phosphate translocase ; Debranching enzyme ; Phosphorylase-6-kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A workshop was held on “Aspects of treatment of patients with glycogen storage disease” within the framework of the Concerted Action “Inborn errors of metabolism” of the European Communities. Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. The resulting recommendations are reported.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442683
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  • 5
    Electronic Resource
    Electronic Resource
    Clinical aspects of glycogen storage disease type I: Summary of the discussions (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 87-88 
    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/BF02072096
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  • 6
    Electronic Resource
    Electronic Resource
    Preface (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 1-1 
    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/BF02072077
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  • 7
    Electronic Resource
    Electronic Resource
    Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 870-873 
    Details
    ISSN: 1432-1076
    Keywords: Key words Ketolytic defect ; Ketone bodies ; Ketoacidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe the clinical symptoms and biochemical findings of a patient with succinyl-CoA:acetoacetate transferase deficiency who presented in the neonatal period and review the current literature on this subject. Our patient was initially suspected to have distal renal tubular acidosis, and subsequently, a fasting test revealed severe metabolic ketoacidosis with normal blood glucose after 13 h which suggest a defect in ketolysis. In his cultured skin fibroblasts succinyl-CoA:acetoacetate transferase was deficient (residual activity 15%). Treatment in the acute phase consisted of sodium bicarbonate. At the present age of 9 years, psychomotor and physical development are within normal limits. Conclusion Defects of ketolysis probably are underdi agnosed disorders and should be considered in infants and young children with persistent ketosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050733
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  • 8
    Electronic Resource
    Electronic Resource
    Liver transplantation for glycogen storage disease types I, III, and IV (1999)
    Springer
    European journal of pediatrics 158 (1999), S. S043 
    Details
    ISSN: 1432-1076
    Keywords: Key words Glycogen storage disease ; Liver transplantation ; Kidney transplantation ; Tube feeding ; Uncooked cornstarch ; AbbreviationsGSD glycogen storage disease ; LT liver transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. The possible development of hepatocellular carcinoma and/or hepatic failure make these GSDs potential candidates for liver transplantation. Early diagnosis and initiation of effective dietary therapy have dramatically improved the outcome of GSD type I by reducing the incidence of liver adenoma and renal insufficiency. Nine type I and 3 type III patients have received liver transplants because of poor metabolic control, multiple liver adenomas, or progressive liver failure. Metabolic abnormalities were corrected in all GSD type I and type III patients, while catch-up growth was reported only in two patients. Whether liver transplantation results in reversal and/or prevention of renal disease remains unclear. Neutropenia persisted in both GSDIb patients post liver transplantation necessitating continuous granulocyte colony stimulating factor treatment. Thirteen GSD type IV patients were liver transplanted because of progressive liver cirrhosis and failure. All but one patient have not had neuromuscular or cardiac complications during follow-up periods for as long as 13 years. Four have died within a week and 5 years after transplantation. Caution should be taken in selecting GSD type IV candidates for liver transplantation because of the variable phenotype, which may include life-limiting extrahepatic manifestations. It remains to be evaluated, whether a genotype-phenotype correlation exists for GSD type IV, which may aid in the decision making. Conclusion Liver transplantation should be considered for patients with glycogen storage disease who have developed liver malignancy or hepatic failure, and for type IV patients with the classical and progressive hepatic form.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014320
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  • 9
    Electronic Resource
    Electronic Resource
    Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency (1999)
    Springer
    Human genetics 〈Berlin〉 104 (1999), S. 1-9 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD. In this group of patients, 7 different mutations have been identified, including 2 deletions [295–298delTCAT, 1897delC], 1 splice-site mutation [IVS14+1G〉A)] and 4 missense mutations (85T〉C, 703C〉T, 2658G〉A, 2983G〉T). Analysis of the prevalence of the various mutations among DPD patients has shown that the G→A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed. A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations. A clear correlation between the genotype and phenotype has not been established. An altered β-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00008711
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  • 10
    Electronic Resource
    Electronic Resource
    The long-term outcome of patients with glycogen storage diseases (1990)
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 411-418 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In this retrospective study from five centres, 139 patients over 10 years of age with glycogen storage disease types I, III, VI and IX are described. Almost half of the patients with glycogen storage disease type Ia had retarded growth and most had hyperlipidaemia. One-third of the patients had adenomas, although none of these showed malignant transformations. With increasing age the growth, liver size and hyperlipidaemia of patients with glycogen storage disease type III improve. However, there was a high incidence of myopathy and cardiomyopathy. Patients with glycogen storage disease types VI and IX had a normal growth pattern after childhood. Hepatomegaly and hyperchole-sterolaemia, however, were still present in half of the patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799498
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