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  • 1
    Electronic Resource
    Electronic Resource
    Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 126-129 
    Details
    ISSN: 1432-1076
    Keywords: Hyperphenylalaninemia ; Biopterin deficiency ; Tyrosine ; Atypical phenylketonuria ; Abnormal EEG
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Deficiency in the synthesis of biopterin causes neonatal hyperphenylalaninemia. We report a 10-year-old girl of normal appearance with a partial defect in biopterin synthesis, normal intelligence and normal serum phenylalanine levels (95 μmol/l) (1.6 mg/dl). During her 1st year of life srum phenylalanine levels were 250 μmol/l (4 mg/dl) and phenylalanine loading performed at 6 months and 1 year of age was not followed by an increase in serum tyrosine. At 9 years of age she had developed a severely abnormal EEG with focal spike activity but no observable clinical abnormalities. Determination of urinary pterins showed abnormal low levels of biopterin and high levels of neopterin. Phenylalanine loading combined with oral administration of tetrahydrobiopterin (BH4) was followed by a normal increase in serum tyrosine and a normal decrease in serum phenylalanine. Considering the importance of BH4 for the synthesis of dopamine, catecholamines, and serotonin we suggest that these cases should be followed carefully. If neurological symptoms appear, e.g., epilepsy, it may be worthwhile to consider treatment with BH4 and neurotransmitter precursors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445592
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  • 2
    Electronic Resource
    Electronic Resource
    Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 238-245 
    Details
    ISSN: 1432-1076
    Keywords: Attention ; Dopamine ; PKU ; Serotonin ; Tyrosine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Seven phenylketonuria (PKU) patients aged 15–24 years were allowed unrestricted diet for 3 weeks. Three of these patients performed well on unrestricted diet according to visual reaction time variability (RTv 50–100 ms) and did not show significant changes when returning to the phenylalanine-restricted diet (RTv 70–100 ms). Neither did the concentrations of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF) change significantly. Four of the patients, however, performed rather poorly (RTv 120–220 ms) on unrestricted diet and improved significantly (P〈0.03) when the diet was restored (RTv 70–150 ms). The improvements were accompanied by significant (P〈0.01 and P〈0.02) increases (mean 52% and 109%) in CSF levels of HVA and 5-HIAA. Five PKU patients aged 15–23 years were allowed unrestricted diet or unrestricted diet supplemented with various amounts of tyrosine (106–194 mg/kg per 24 h). Two of these patients performed very well on unrestricted diet (RTv 60 ms) and showed little change when the unrestricted diet was supplemented with tyrosine (RTv 70 ms and 80 ms). The three other patients, who performed rather poorly (RTv 120–220 ms), improved significantly (P〈0.03) when the unrestricted diet was supplemented with tyrosine (RTv 70–140 ms). HVA in CSF increased significantly (P〈0.01) with the tyrosine supplement when the amount exceeded a threshold of approximately 80 mg/kg per 24 h. The simultaneous increase in CSF level of 5-HIAA showed a positive correlation (r=0.90; P〈0.02) with the increase in HVA concentration suggesting a functional interrelation between the dopaminergic and the serotoninergic nervous systems.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441411
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  • 3
    Electronic Resource
    Electronic Resource
    Decreased vigilance and neurotransmitter synthesis after discontinuation of dietary treatment for phenylketonuria in adolescents (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 17-20 
    Details
    ISSN: 1432-1076
    Keywords: Attention ; Serotonin ; Dopamine ; PKU
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Four adolescent or young adult patients with phenylketonuria were examined before and after discontinuation of dietary treatment. Plasma and CSF phenylalanine concentrations increased about two-fold in three patients. In these patients the CSF concentration of the dopamine and serotonin metabolites homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) decreased markedly; 5-HIAA to extremely low values. The reaction time variability increased in these patients. In the fourth case plasma phenylalanine levels, CSF HVA and 5-HIAA levels, and reaction time variability were essentially unchanged. The relationship between reaction time variability and the CSF 5-HIAA level for all four patients could be presented as a linear function. However, a causal relationship is still unproven. These preliminary findings demonstrate that there may be hazards in the discontinuation of dietary treatment, even in adolescents or young adults, for neurotransmitter metabolism and mental function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00491918
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  • 4
    Electronic Resource
    Electronic Resource
    Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and α1-antitrypsin deficiencydeficiency (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 572-575 
    Details
    ISSN: 1432-1076
    Keywords: Hunter syndrome ; α1-antitrypsin deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The chance coincidence of an X-linked disorder with an autosomal recessive disorder in one child is described. The child had the clinical phenotype of a mucopolysaccharidosis and the activity of iduronate sulphatase was almost absent. Furthermore, fibroblasts from a typical Hunter patient were unable to correct the patient's fibroblasts. However, three 24 h urine samples collected at 18–36 months of age showed a nearly normal excretion of acid mucopolysaccharides. The boy died in liver coma at 3 years of age. Autopsy showed cirrhosis of the liver and changes in liver tissue consistent with α1-antitrypsin deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02429071
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  • 5
    Electronic Resource
    Electronic Resource
    Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome (1983)
    Springer
    Human genetics 〈Berlin〉 64 (1983), S. 371-375 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Pulse-chase experiments measuring 35S-sulphate incorporation into acid mucopolysaccharides were performed in the presence and absence of fructose 1-phosphate on fibroblasts obtained from one skin-biopsy of 25 obligate Hunter carriers. The presence of fructose 1-phosphate significantly increased the accumulation of 35S-labelled acid mucopolysaccharides in fibroblast cultures of 23 obligate Hunter carriers. In one carrier, the accumulation of labelled acid mucopolysaccharides was significantly increased prior to the addition of fructose 1-phosphate, and in one of the 25 obligate carriers the 35S-sulphate incorporation was normal in the presence as well as in the absence of fructose 1-phosphate. Similar experiments performed on mixtures of Hunter cells and normal cells revealed that 20% Hunter cells should be present to obtain a significantly increased difference in between the incroporation in the presence and in the absence of fructose 1-phosphate. Fructose 1-phosphate had no effect on the accumulation of labelled mucopolysaccharides in fibroblast-cultures of seven women with no family history of mucopolysaccharidosis. The present results show that pulse-chase experiments measuring 35S-sulphate incorporation into fibroblasts, cultured in the presence of fructose 1-phosphate, can identify Hunter carriership, provided that the accumulation is normal prior to the addition of fructose 1-phosphate. Furthermore, 35S-sulphate incorporation in the absence of fructose 1-phosphate, higher than mean +4 SD of normal control-fibroblasts indicates carriership.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292369
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  • 6
    Electronic Resource
    Electronic Resource
    Biopterin, neopterin and tyrosine responses to combined oral phenylalanine and tetrahydrobiopterin loading tests in two normal children and in a girl with partial biopterin deficiency (1985)
    Springer
    Journal of inherited metabolic disease 8 (1985), S. 95-96 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01811475
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