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  • 1995-1999  (7)
  • Key words Phenylketonuria  (6)
  • Amiloride  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Psychosocial aspects in phenylketonuria (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S101 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words Phenylketonuria ; Psychological characteristics ; Social ; findings
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Psychosocial aspects in phenylketonuric (PKU) patients are reported. In two separate studies patients with PKU differing in age (children versus adolescents), were assessed. The main message of the first prospective study on 58 10-year-old patients is that normally intelligent PKU patients who were treated early and strictly did not show a higher risk for severe emotional and behavioural maladjustment compared with healthy controls at the age of 10 years. The data were obtained in the course of the German PKU Collaborative Study by the “Personality Questionnaire for Children (PFK 9–14)”. All patients received nutritional, medical, and psychological counselling every 6 months. In the second retrospective study, 34 early treated, normally intelligent adolescents with PKU (age: mean = 14.6, SD = 2.0, range = 11–18 years) and their mothers were assessed with several psychometric personality inventories and self-developed questionnaires concerning their psychosocial situation and their disease- and diet-specific knowledge. Using the Mannheimer Biographic Inventory (MBI), the Personality Questionnaire for Children (PFK 9–14), and the Freiburger Personality Inventory (FPI) the adolescent patients described their social life and their emotional development as being distinctly restricted. Their knowledge concerning disease and diet was alarmingly poor and the majority had great difficulties in satisfactory dietetic management without parental help. In addition to the burdensome diet, developmental crises like puberty may cause more frequently emotional and behavioural problems in PKU patients.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/PL00014225
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  • 2
    Digitale Medien
    Digitale Medien
    Untreated non-Phenyketonuric-hyperphenylalaninaemia: intellectual and neurological outcome (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S26 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words Phenylketonuria ; Non-PKU HPA ; intellectual and neurological outcome
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The intellectual, neurological, and neuropsychological outcome of patients with non-phenylketonuric-hyperphenylalaninaemia (PKU-HPA) (serum phenylalanine levels under free diet 〈 600 μmol/l) has not been systematically studied so far. We therefore tested 28 patients (mean age = 21.8, SD = 4.2 years) for IQ (WAIS-R/WISC-R), school performance, job career, clinical neurological examination, fine motor performance (motor performance task), and selective and sustained attention (stroop task, Dot Pattern Exercise from the Sonneville visual attention task). In addition, cranial MRI (1.5 T unit) was obtained in 10 of these patients. Clinical-neurological examination revealed no significant abnormalities in the non-PKU-HPA patients. They also had a normal IQ (mean = 101.9, SD = 13.6). Compared to their healthy siblings, they attended a normal school and had a normal job career. The motor performance task revealed no deficits in fine motor abilities. The patients performed normally in the stroop task and the dot pattern exercise. Their MRIs were normal. Our results indicate that patients with non-PKU-HPA are not at risk for developing intellectual, neurological, and neuropsychological impairment, as described for patients with treated mild or classical phenylketonuria. From this point of view a dietary treatment is not necessary in patients with hyperphenylalaninaemia.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/PL00014244
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  • 3
    Digitale Medien
    Digitale Medien
    Effect of l-dopa on visual evoked potentials and neuropsychological tests in adult phenylketonuria patients (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S74 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words Phenylketonuria ; l-dopa therapy ; Neuropsychological tests
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Eight adult, untreated patients with classical phenylketonuria received L-dopa and a decarboxylase inhibitor for 2 weeks. No effect of l-dopa therapy on choice reaction time tasks, sustained attention, frontal lobal function as well as latencies of visual evoked potentials was found. The results raise the question if adult patients with phenylketonuria really suffer from functional dopamine deficiency.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/PL00014256
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  • 4
    Digitale Medien
    Digitale Medien
    German Maternal Phenylketonuria Study (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S173 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words Phenylketonuria ; Maternal phenylketonuria ; Phenylalanine ; Pregnancy outcome ; Phenylalanine restricted diet
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The German maternal phenylketonuria (MPKU) Study began in 1989 and since 1992 works together with the American-Canadian MPKU Study. Main goals of the study are: (1) to find women with phenylketonuria (PKU) and mild untreated hyperphenylalaninaemia (HPA); (2) to inform them about the risks of an untreated pregnancy with PKU and HPA; (3) to evaluate the efficacy of the phenylalanine (Phe) restricted dietary treatment prior to and during pregnancy by following the physical and cognitive development of offspring from treated pregnancies. An interim report of the study is presented. Until now, 43 pregnancies have been followed. They resulted in 34 live births, 24 from women with PKU and 10 from women with HPA. There are significant negative correlations between the gestational age in which the dietary control (blood Phe level 〈 360 μmol/l) was reached and pregnancy outcome as measured by growth parameters and early cognitive and motor developmental quotients at the age of 2 years. For minimizing risks of MPKU, preconceptional dietary control is strongly recommended. Tracking and timely information of young women about risks of MPKU is of outmost importance.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/PL00014241
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  • 5
    Digitale Medien
    Digitale Medien
    Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997 (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 46-54 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words Phenylketonuria ; Hyperphenylalaninaemia ; Phenylalanine levels ; Treatment recommendations
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Treatment of hyperphenylalaninaemias due to phenylalanine hydroxylase deficiency with a low phenylalanine (Phe) diet is highly successful in preventing neurological impairment and mental retardation. There is consensus that, for an optimal outcome, treatment should start as early as possible, and that strict blood Phe level control is of primary importance during the first years of life, but for adolescent and adult patients international treatment recommendations show a great variability. A working party of the German Working Group for Metabolic Diseases has evaluated research results on IQ data, speech development, behavioural problems, educational progress, neuropsychological results, electroencephalography, magnetic resonance imaging, and clinical neurology. Based on the actual knowledge, recommendations were formulated with regard to indication of treatment, differential diagnosis, and Phe level control during different age periods. The development of the early-and-strictly-treated patient in middle and late adulthood still remains to be investigated. Therefore, the recommendations should be regarded as provisional and subject to future research. Efficient treatment of phenylketonuria has to go beyond recommendations for blood Phe level control and must include adequate dietary training, medical as well as psychological counselling of the patient and his family, and a protocol for monitoring outcome. Conclusions Early-and-strictly-treated patients with phenylketonuria show an almost normal development. During the first 10 years treatment should aim at blood Phenyl-alanine levels between 40 and 240 μmol/L. After the age of 10, blood phenylalanine level control can be gradually relaxed. For reasons of possible unknown late sequelae, all patients should be followed up life-long.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004310051008
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  • 6
    Digitale Medien
    Digitale Medien
    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
    Schlagwort(e): Key words Phenylketonuria ; Positron emission tomography ; Dopamine D2-receptor
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/PL00014257
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  • 7
    Digitale Medien
    Digitale Medien
    Luminal transport system for H+/organic cations in the rat proximal tubule (1995)
    Springer
    Pflügers Archiv 430 (1995), S. 477-492 
    Details
    ISSN: 1432-2013
    Schlagwort(e): N-Methyl-4-phenyl-pyridinium (MPP+) ; N 1-Methylnicotinamide ; Tetraethylammonium (TEA+) ; Choline ; Amiloride ; Cortisol
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The efflux of radiolabelled organic cations from the tubular lumen into proximal tubular cells was investigated by using the stop-flow microperfusion method. The efflux rate increased in the sequence: N 1-methylnicotinamide (NMeN+) 〈 cimetidine 〈 tetraethylammonium (TEA+) 〈 N-methyl-4-phenylpyridinium (MPP+). Preloading the animals by i.v. infusion or pre perfusion of the peritubular capillaries with NMeN+ increased the efflux rate of MPP+. Luminal efflux was also augmented when the tubular solution was made alkaline with HCO 3 − or phosphate, whereby HCO 3 − is more effective than phosphate. Replacement of Na+ by Cs+ showed no effect. With i.v. preloading the animals with NMeN+ and with 25 mM HCO 3 − in the luminal perfusate the 2-s efflux follows kinetics with a Michaelis constant K m=0.21 mmol/l and maximal flux J max=0.42 pmol · cm−1 · s−1 and a permeability term with P=37.7 μm2 · s−1. Comparing the apparent luminal inhibitory constant values for MPP+ $$(Ki_{l,MPP^ + } )$$ with the apparent contraluminal $$Ki_{cl,NMeN^ + }$$ values of substrates of homologous series, it was found that (1) limitation by molecular size occurs at the contraluminal cell side earlier than at the luminal cell side; (2) affinity increases with hydrophobicity of the substrates at the luminal cell side, with a steeper or equal slope than at the contraluminal cell side; (3) affinity increases with basicity (i.e. pKa values) at the luminal cell side with a steeper slope than at the contraluminal cell side. Taken together, substrates with low hydrophobicity and low basicity interact at the luminal cell side more weakly than at the contraluminal cell side. On the other hand large, hydrophobic substrates have, at the luminal cell side, a higher affinity than at the contraluminal cell side. Many substrates, however, have equal affinity at the luminal and contraluminal cell sides.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00373884
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