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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 113 (1972), S. 193-204 
    ISSN: 1432-1076
    Keywords: Tyrosinosis ; Influence of Dietary Treatment ; Metabolism of Tyrosine, Phenylalanine, Methionine ; Hypoglycemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die biochemischen und klinischen Veränderungen eines Patienten mit Tyrosinose wurden über 2 Jahre verfolgt. Die Reduktion der Phenylalanin- und Tyrosinaufnahme führte zur Heilung der Rachitis sowie zur Normalisierung der Hypophosphatämie, der tubulären Phosphatreabsorption und der Methioninämie. Dieser Effekt war bei Auslaßversuchen reproduzierbar. Die Störungen im Methioninabbau besserten sich jedoch auch später unabhängig von der Tyrosinämie. Diese spontane Besserung, eher unabhängig von der Therapie und im Verlauf der Erkrankung oder mit zunehmendem Alter erfolgend, ließ sich gleichfalls an anderen Symptomen, wie der Thrombocytopenie, den Gerinnungsstörungen und dem verzögerten Phenylalaninabbau beobachten. Der fehlende oder nicht reproduzierbare Einfluß des normalisierten Tyrosinstoffwechsels auf diese Symptome spricht dafür, daß sie eher unabhängig neben der Tyrosinämie bestehen und nicht durch diese bedingt sind. Das Ausmaß der Tyrosinämie war in allen Krankheitsphasen abhängig von der Menge des aufgenommenen Phenylalanin und Tyrosin, die Belastungen mit Phenylalanin ergeben unabhängig vom Alter etwa gleiche Konzentrationskurven für Tyrosin. Die Störungen im Glucosestoffwechsel scheinen durch die Methioninämie verursacht, da Hypoglykämie und fehlender Anstieg des Blutzuckers nach Glukagoninjektion nur bei erhöhten Methioninserumkonzentrationen auftraten, bei isolierter Tyrosinerhöhung hingegen nicht gefunden wurden und beides durch eine Methioninbelastung provoziert werden konnte.
    Notes: Abstract A child with so-called “tyrosinosis” was treated with a reduced phenylalanine and tyrosine intake (100 mg/kg/day) for two periods of 2 and 9 months each. Healing of rickets, normalization of phosphate in the serum and increased tubular reabsorption of phosphate occurred during treatment achieving normal tyrosine levels, whilst these parameters, worsened when the tyrosine in the palsma rose. Methioninemia disappeared and reappeared together with tyrosinemia during and after the first period of treatment (methionine intake was unchanged). Later on these symptoms were no longer correlated, and high levels of methionine were only found during a period of vomiting, loss of weight, failure to grow and normal blood tyrosine levels. Thus the delayed methionine degradation seems be influenced by age, rate of protein synthesis and tyrosinemia. Thrombocytopenia, disturbed liver functions and other symptoms also improved with advancing age or during the natural course of the disease and did not seem to be directly related to dietary treatment. By contrast, the degree of tyrosinemia remained unchanged, depending on the amount of phenylalanine and tyrosine in the food. Hypoglycemia and methioninemia were correlated, the difference in blood sugar between periods with and without methioninemia being statistically significant. Furthermore, there was no rise in the glucose level after glucagon injection when the methionine level was elevated, whilst the results of the glucagon tests were approximately normal at low methionine levels. These findings indicate that hypoglycemia and rickets are secondary symptoms, whereas the other abnormalities seem be more independent of the disturbed tyrosine metabolism.
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  • 2
    ISSN: 1432-1076
    Keywords: Maple syrup urine disease ; emergency treatment ; Exchange transfusion ; Neonatal period ; Calorie intake
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. On the other hand, evidence is provided suggesting that in addition to exchange transfusions, a high calorie intake above 150 Cal/kg body weight/day is necessary to lower the plasma concentration of the branched chain amino acids to near-normal levels. As long as this calorie intake was not provided, further exchange transfusions failed to lower the plasma leucine concentration to below 17 mg/100 ml in one patient. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. Treatment of acute episodes in maple syrup urine disease should therefore not only eliminate the elevated alpha-keto acids and branched chain amino acids quickly (i.e. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.
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  • 3
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 138 (1982), S. 104-104 
    ISSN: 1432-1076
    Keywords: Coenzyme ; Atypical phenylketonuria ; Hyperphenylalaninaemia ; Malignant phenylketonuria ; Tetrahydrobiopterin ; Biopterin ; Neurotransmitters ; Dopamine ; Serotonine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Screening ; Neonatal mass screening ; Metabolic disorders ; Hypothyroidism ; Hyperphenylalaninaemia ; Galactosaemia ; Maple syrup urine disease ; Adrenogenital syndrome ; Cystic fibrosis ; Duchenne's muscular dystrophy ; Histidinaemia ; Hypermethioninaemia ; Tyrosinaemia ; Haemoglobinopathies ; Glucose-6-phosphate dehydrogenase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The present situation of neonatal mass screening for metabolic disorders in eleven European countries is presented. The only disease screened for on a population wide basis in almost all countries is phenylketonuria. Screening for congenital hypothyroidism has been started in most countries or is under active consideration. A priority list of disorders that should be screened for routinely in all newborns comprises congenital hypothyroidism, hyperphenylalaninaemia, galactosaemia and maple syrup urine disease. Other disorders, like adrenogenital syndrome, cystic fibrosis. Duchenne's muscular dystrophy, histidinaemia, or tyrosinaemia cannot be recommended for mass screening at present because of an unsatisfactory test procedure or lack of effective treatment.
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  • 6
    ISSN: 1432-1076
    Keywords: Inter-laboratory quality control ; Neonatal screening ; Inborn errors of metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Screening of neonates for inborn errors of metabolism has been carried out on a national level since 1969 in the Federal Republic of Germany. To raise the reliability of these routine investigations, we introduced an external quality control in March 1982. Every 2 months ten filter paper samples were sent to the screening centres in West Germany. Some of these samples have a normal and others a slightly raised content of phenylalanine, leucine, methionine and galactose. The success of this external quality control is appraised on the basis of the number of false negative results. In the course of time, screening centres in France, Israel, Italy, Japan, Switzerland, Taiwan, Turkey and Yugoslavia have also practicipated in these inter-laboratory quality controls.
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  • 7
    ISSN: 1432-1076
    Keywords: CNS development ; Dietary treatment ; EEG ; IQ ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 34 children with phenylketonuria (PKU) treated early the prognostic value of the age on institution of the diet (within the first 3 months of life) and of the quality of dietary treatment was determined in two different ways: 1) following intelligence closely (IQ) and (2) evaluating the EEG development up to their 12th (n=34) and 15th (n=18) years of life as appropriate. In general, IQ scores were found to be normal from the 4th–15th years of life. In our group of patients there was no effect on the IQ of the timing of diet onset. Children with “strict” dietary control showed a significantly higher IQ than those with “loose” control. One hundred and fifty-four EEGs (10/20 system, awake with eyes closed) were recorded at intervals of 2 years and conventionally evaluated. The development of alpha-activity was found to be normal. Beta-activity was enhanced. Abnormal EEG findings like general slowing and generalized paroxysmal activity (GPA) with or without spikes were more frequent in children with PKU than in controls, with the exception of focal abnormalities. EEG abnormalities increased with advancing age independently of IQ development and showed no relation to either the age at the onset nor the quality of dietary treatment.
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  • 8
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 9
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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  • 10
    ISSN: 1432-1076
    Keywords: Neonatal screening in West Germany ; Inborn errors of metabolism ; Results
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Capillary blood samples from almost one million neonates from Baden-Württemberg were investigated for inborn errors of metabolism between 1969 and 1984 in our screening centre. Besides 7 patients with maple syrup urine disease (MSUD), 3 with homocystinuria and 18 with galactosaemia, a follow-up of the positive screening results confirmed 94 patients with phenylketonuria (PKU) and 76 with non-PKU hyperphenylalaninaemia (non-PKU HPA). The incidence of PKU is 1: 10 000, and that of HPA in the wider sense (PKU and non-PKU HPA) as obtained by newborn screening before further classification at 6 months 1: 5532. For West Germany as a whole, the number of newly discovered cases with persistent hyperphenylalaninaemia was 1480 in the same period. The subdivision into PKU and non-PKU HPA is not yet possible from this figure. It is strongly suggested that the abnormal results of newborn screening for phenylalanine be designated as hyperphenylalaninaemia (in the wider sense) and that the terms “PKU” or “non-PKU HPA” be used only after further differentiation as carried out by us at the age of 6 months.
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