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  • Inorganic Chemistry  (16)
  • Phenylketonuria  (4)
  • Key words Phenylketonuria  (3)
  • Scorpion Venom  (3)
  • 1
    Electronic Resource
    Electronic Resource
    Long-term development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 361-367 
    Details
    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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496411
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  • 2
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 176-178 
    Details
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Biopterin ; Phosphate-eliminating enzyme ; 6-Pyruvoyl tetrahydropterin synthase ; Amniotic fluid ; Erythrocytes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446058
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  • 3
    Electronic Resource
    Electronic Resource
    Magnetic resonance imaging of the brain in adolescents with phenyketonuria and in one case of 6-pyruvoyl tetrahydropteridine synthase deficiency (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S69 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Phenylalanine ; Magnetic resonance ; imaging ; Evoked potentials ; Myelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract White matter abnormalities on MRI have been observed in phenylketonuria (PKU) patients with late onset neurological symptoms as well as in neurologically inconspicious patients. We investigated 14 early treated adolescents at an age between 12 and 17 years (mean age 14.3 years) with classical PKU as well as one retarded patient with atypical PKU by cranial MRI with spinecho T1-, T2- and proton density sequences. Clinical examination was normal. Visual evoked potential (VEP) examination showed a prolonged latency of peak P100 (mean 122.6 ms; control mean 115.9) and IQ testing showed a mean IQ of 101.1. To investigate the influence of plasma phenylalanine (Phe) levels three approaches were used: Phe was determined for the day of MRI, for a period of 6 months prior to MRI and for lifetime up to 12 years. MRI scans revealed areas of abnormally increased signal intensity on T2-weighted and proton density images in 12 (86%) patients, preferably involving the parieto-occipital lobes. MRI of the patient with atypical PKU was normal. MRI findings correlated most strongly to long-term dietary control up to 12 years. We found no correlation with the other parameters of biochemical control, IQ or VEP latency. The nature and prognosis of MRI abnormalities in neurologically normal PKU patients remain unclear although abnormalities in VEPs which were not associated with the degree of MRI abnormalities in our sample indicate a disturbance in myelination along the visual pathways.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014255
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  • 4
    Electronic Resource
    Electronic Resource
    Neurological outcome in adult patients with early-treated phenylketonuria (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 824-830 
    Details
    ISSN: 1432-1076
    Keywords: Key words Intelligence ; Neurology ; Neuropsychology ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Due to the observation of severe neurological symptoms in single patients as well as brain imaging, neuropsychological and neurophysiological abnormalities, the long-term prognosis of treated phenylketonuria is still under discussion. We investigated the neurological outcome of 57 (24 male, 33 female) patients with phenylketonuria (diet onset 〈3 months) at a mean age of 23.6 (17–33) years in comparison to control subjects. Methods used were a clinical-neurological examination, tests for fine motor abilities, IQ test (WAIS-R), a neuropsychological attention task and MRI (30 patients only). Tremor was increased in the patients (28%) compared to controls (15%). Fine motor abilities were significantly reduced in three areas: hand-wrist steadiness, finger-hand dexterity and hand-wrist speed. Tremor as well as reduced fine motor skills were not associated with treatment-related variables, e.g. diet onset, strictness of biochemical control or amount of MRI white matter change. IQ was lower in patients (mean 97.6) compared to matched control subjects (mean 105.5). IQ at 12 years was correlated with biochemical control from birth up to the age of 12 and remained stable up to adult age, independent of biochemical control after 12 years of age. In contrast to the other outcome parameters, the performance in a neuropsychological attention task was influenced by the concurrent plasma phenylalanine concentration. Specific late-onset neurological impairment was not identified in this sample of early-treated adults with phenylketonuria. Conclusion Careful neurological investigation revealed subtle symptoms of brain damage even after early-initiated treatment in adult patients with phenylketonuria. At present it cannot be excluded that further neurological deterioration could emerge later in life. Thus, patients with phenylketonuria – either on or off diet – should be monitored throughout life.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050945
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  • 5
    Electronic Resource
    Electronic Resource
    Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S11 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Genotype ; Treatment ; IQ
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The interdependence of the predicted in vitro residual enzyme activity (PRA), as deduced from the complete genotypes of 64 hyperphenylalaninaemic patients, and parameters for diagnosis of hyperphenylalaninaemic disorders, the fluctuation of the phyenlylalanine (Phe) values during treatment, long-term dietary control during treatment, and a parameter for the outcome of therapy (IQ) was investigated by correlation analysis. A highly significant correlation was found between the PRA and diagnostic parameters, as well as the fluctuation of the Phe values during treatment. Significant correlations were also observed between the parameter describing the fluctuation of the Phe values and the IQ, as well as between the quality of dietary control and IQ. The PRA is a valuable tool for the differential diagnosis of hyperphenylalaninaemic disorders and for the prediction of one aspect of the course of the disease which is related to the intellectual outcome of therapy. The quality of dietary control was independent of the genotype, indicating that the outcome of therapy can be successfully manipulated in spite of the genetic make-up.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014222
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  • 6
    Electronic Resource
    Electronic Resource
    Intelligence and professional career in young adults treated early for phenylketonuria (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S97 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Intelligence ; Education ; Professional career ; Phenylalanine ; control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The intellectual status and professional careers of 51 young adults with phenylketonuria whose treatment started before 3 months of age are described. Their mean IQ was 97 (SD = 16). Of the IQs, 4% were more than 2 SD below the norm. The distribution of types of schooling of the patients was comparable to that in the German population. The professional careers of nearly all the patients were according to their educational level. Within the sample the outcome was significantly correlated with phenylalanine (Phe) control, even when the patients’ social background was statistically taken into account. The main influence of Phe on intelligence seems to occur during the first decade of life since IQ data remain stable even after Phe levels increased during adolescence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014262
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  • 7
    Electronic Resource
    Electronic Resource
    Continuation vs discontinuation of low-phenylalanine diet in PKU adolescents (1987)
    Springer
    European journal of pediatrics 146 (1987), S. A17 
    Details
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Adolescents ; Dietary control ; Intelligence ; Psychological problems
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442050
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  • 8
    Electronic Resource
    Electronic Resource
    Die Wirkung von Skorpiongift auf die Ionenströme des Ranvierschen Schnürrings (1968)
    Springer
    Pflügers Archiv 303 (1968), S. 133-149 
    Details
    ISSN: 1432-2013
    Keywords: Node of Ranvier ; Ionic Currents ; Scorpion Venom ; Ranvierscher Schnürring ; Ionenströme ; Skorpiongift
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung 1. Die Wirkung von Skorpiongift (10−6 g/ml) auf die Ionenströme einzelner markhaltiger Nervenfasern von Xenopus laevis wurde in voltage-clamp-Experimenten untersucht. 2. Skorpiongift beeinflußt sowohl die Natrium- als auch die Kalium-Permeabilität der Schnürringmembran. 3. Die hauptsächlichen Wirkungen des Skorpiongiftes auf die Natrium-PermeabilitätP Na sind: a) Die maximale Natrium-Permeabilität $$\bar P_{_{{\rm N}a} } $$ wird auf 60% ihres an der unvergifteten Membran gemessenen Wertes reduziert. b) Die Natriuminaktivierung wird stark verlangsamt und verläuft in zwei Phasen. c) Der zeitliche Verlauf vonP Na kann unter der Annahme beschrieben werden, daß die Variableh aus zwei Komponentenx undy besteht, deren Zeitkonstanten τ x und τ y 4 bzw. 200 mal so groß sind wie τ h der unvergifteten Membran. 4. Die Wirkungen des Skorpiongiftes auf die Kalium-PermeabilitätP K sind: a) Die maximale Kalium-PermeabilitätP K' wird auf etwa 35% ihres Normalwertes vermindert. b) Der Anstieg vonP K bei Depolarisation wird verlangsamt; zwei Phasen können unterschieden werden. 5. Die Wirkungen auf die Natrium-Inaktivierung und auf die Kalium-Permeabilität können die unter dem Einfluß von Skorpiongift beobachtete extreme Verlängerung des Aktionspotentials erklären.
    Notes: Summary 1. The action of scorpion venom (10−6 g/ml) on the ionic currents of single myelinated nerve fibres of Xenopus laevis was studied in voltage clamp experiments. 2. Scorpion venom was found to affect the sodium permeability as well as the potassium permeability of the nodal membrane. 3. The main effects of scorpion venom on the sodium permeabilityP Na are: a) The maximum sodium permeability $$\bar P_{_{{\rm N}a} } $$ is reduced to 60% of its value in the unpoisoned membrane. b) The sodium inactivation is markedly slowed and proceeds in two phases. c) The time course ofP Na can be described assuming that the variableh is the sum of two componentsx andy, whose time constants τ x and τ y are 4 and 200 times τh of the unpoisoned membrane. 4. The effects of scorpion venom on the potassium permeabilityP K are: a) The maximum potassium permeabilityP K' is reduced to about 35% of its normal value. b) The increase ofP K' upon depolarisation is slowed down; two phases can be distinguished. 5. The effects on sodium inactivation and potassium permeability may explain the extreme prolongation of the action potential under the influence of scorpion venom.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00592631
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  • 9
    Electronic Resource
    Electronic Resource
    Die Wirkung von Skorpiongift auf die Ionenströme des Ranvierschen Schnürrings (1968)
    Springer
    Pflügers Archiv 303 (1968), S. 150-161 
    Details
    ISSN: 1432-2013
    Keywords: Node of Ranvier ; Sodium Inactivation ; Scorpion Venom ; Ranvierscher Schnürring ; Natrium-Inaktivierung ; Skorpiongift
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung 1. Die Wirkung von Skorpiongift auf die Inaktivierung der Natrium-PermeabilitätP Na wurde in voltage-clamp-Experimenten an einzelnen markhaltigen Nervenfasern von Xenopus laevis untersucht. 2. Beim normalen Ruhepotential warP Na der vergifteten Membran stärker inaktiviert als an der unvergifteten Membran; bei starken Depolarisationen war die Inaktivierung jedoch unvollständig. 3. Der zeitliche Verlauf vonP Na konnte unter verschiedenen experimentellen Bedingungen mit den Hodgkin-Huxley-Gleichungen beschrieben werden, die wie folgt modifiziert wurden: a) die Variableh wurde durch eine schnelle Komponentex und eine langsame Komponentey ersetzt; b) die Komponentex nahm selbst bei Depolarisationen von mehr als 40 mV nicht auf Null ab.
    Notes: Summary 1. The action of scorpion venom on the inactivation of the sodium permeabilityP Na was studied in voltage-clamp experiments on single myelinated nerve fibres of Xenopus laevis. 2. At the normal resting potentialP Na of the poisoned membrane was more inactivated than the control; at large depolarizations inactivation was, however, incomplete. 3. The time course ofP Na under various experimental conditions could be described by theHodgkin-Huxley equations modified as follows: a) the variableh was split into a fast and a slow component (x andy, respectively); b) componentx did not vanish even for depolarizations by more than 40 mV.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00592632
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  • 10
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    Electronic Resource
    Influence of calcium ions on the ionic currents of nodes of Ranvier treated with scorpion venom (1972)
    Springer
    Pflügers Archiv 333 (1972), S. 51-61 
    Details
    ISSN: 1432-2013
    Keywords: Node of Ranvier ; Ionic Currents ; Scorpion Venom ; Calcium Ions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Voltage clamp experiments were done on myelinated nerve fibres of Xenopus laevis to study the effect of calcium on the ionic currents of the nodal membrane treated with scorpion venom. Increasing the calcium concentration of the medium from 1.8 to 7.2 mM produced the following changes of the sodium and potassium permeabilities,P Na andP K: a) The incomplete sodium inactivation, which is typical for nodes of Ranvier treated with scorpion venom, is abolished. The curves relatingm ∞ and τ m to membrane potential are shifted by 8–10 mV towards larger depolarizations.P Na and the time constants of the fast and slow components of the sodium inactivation remain practically unchanged. b) The maximum potassium permeability,P K, which is reduced by scorpion venom to 45% of the value observed in the normal node, increases to 68% by addition of calcium ions; τ n is unchanged. These effects of calcium ions on the ionic permeabilities explain the shortening of the extremely prolonged action potential and the inhibition of spontaneous activity observed in nodes of Ranvier poisoned with scorpion venom.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00586041
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