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  • 11
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. S101 
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Psychological characteristics ; Social ; findings
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1990), S. 13-16 
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Phenylalanine intake ; Diet control ; Compliance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The daily Phe intakes of normally growing 1- to 6-year-old treated PKU patients were evaluated. The children received protein in amounts that varied from 2.26±0.47 g/kg body weight per day (mean±SD) at the age of 6 to 1.81±0.35 at the age of 72 months. Mean Phe intakes declining from 34±7 at the age of 6 months to 15±5 mg/kg body weight per day at the age of 72 months were required to maintain mean median plasma Phe levels around 6.0 mg/dl.
    Type of Medium: Electronic Resource
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  • 13
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Myelination ; Magnetic resonance imaging ; 1H spectroscopy ; T2 relaxometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In order to further clarify the pathogenesis and clinical significance of MRI white matter abnormalities in treated hyperphenylalaninaemia (HPA), ten patients (seven type I HPA, two type II and one type III) underwent T2 relaxometry (n=8) and/or1H spectroscopy (n=7) in addition to conventional MR spin-echo imaging at 1.5 T. Two patients with severe MRI abnormalities had repeat examinations during and after a 6-to 8-month period of strict diet control. The clinical evaluation included a detailed neurological examination. In nine out of ten patients visual evoked potentials (VEP) were obtained parallel to the MR examination. MR imaging demonstrated typical symmetrical areas of prolonged T2 relaxation time predominantly in the posterior periventricular white matter in all but one of type I and II patients. There was no consistent relationship between MRI findings and time of diagnosis/initiation of therapy, IQ or visual evoked potential changes. MRI abnormalities tended to be more severe in patients with poor dietary control and high current plasma phenylalanine levels, whereas a normal MRI was found only in patients with plasma phenylalanine levels continuously below 0.36 mmol/l. There was marked regression of MRI abnormalities already after 3 months of strict diet control. T2 relaxometry showed a bi-exponential behaviour of T2 in the affected white matter, with a slow component of about 200–450 ms, indicating an increase in free (extracellular) water.1H spectroscopy revealed no signs of severe neuronal damage. We conclude, that the observed white matter changes in treated HPA probably represent reversible structural myelin changes rather than permanent demyelination.
    Type of Medium: Electronic Resource
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  • 14
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 674-676 
    ISSN: 1432-1076
    Keywords: Glycogen storage disease type I ; Kidney involvement ; Renal scintigraphy ; Effective renal plasma flow
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To evaluate effective renal plasma flow (ERPF) we performed renal scintigraphies with99mTc-Mercaptoacetyl-triglycine (MAG3) in ninepatients with glycogen storage disease I (GSD I) (age: 16±7 years). Two patients presented with proteinuria, none showed hyperaminoaciduria, disturbed tubular reabsorption of phosphate or hypertension.99mTc-MAG3 clearance values were elevated in eight out of nine patients (865±233 ml/min/1.73 m2 body surface area) and exceeded the agedependent mean values by 21%–145%. ERPF values in patients with poor metabolic control were higher than in patients with long-term good metabolic control (988±186 vs. 619±55 ml/min/1.73 m2;P〈0.05). We conclude that enhanced ERPF is a common finding in GSD I patients, which preceeds clinically overt nephropathy. Renal scientigraphy with99mTc MAG3 is a suitable method for the early detection and monitoring of kidney dysfunction in GSD I.
    Type of Medium: Electronic Resource
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  • 15
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 77-84 
    ISSN: 1432-1076
    Keywords: Glycogen-storage-disease type I ; Favism ; Diabetes mellitus ; Triglycerides ; Atherosclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The glycogen storage disorders (GSD)-I,-III,-VI and VIII are associated with hypertriglyceridaemia or mixed hyperlipidaemia which poses the question whether these patients have an increased risk for atherosclerosis. The atherogenicity of triglycerides has remained controversial, while increased plasma cholesterol levels are generally accepted as a significant risk factor for coronary heart disease. However, clinical data show that one has to differentiate between metabolic conditions where triglycerides are atherogenic and those which are not significantly related to early onset of atherosclerosis but may cause other disorders such as pancreatitis. Among the disorders of carbohydrate metabolism patients with diabetes mellitus frequently have enhanced plasma triglycerides associated with a higher risk for coronary heart disease, while patients with certain types of glycogen storage disease have high triglyceride levels but do not seem to have an enhanced risk for atherosclerosis. Here we have compared the biochemical abnormalities and the atherogenic risk of three different disorders of glucose metabolism including GSD-I (glucose-6-phosphatase deficiency), favism (glucose-6-phosphate dehydrogenase deficiency), and diabetes mellitus which are related to either hyper- or hypolipidaemia. The available data indicate that glucose-6-phosphate (Glc-6-P) is a central molecule in cellular glucose metabolism which critically influences pentose phosphate cycle activity and, via NADPH2-generation, regulates glutathione peroxidase activity for radical detoxification and also cholesterol and triglyceride synthesis. Radical detoxification is a major protective factor for cell membrane integrity and together with an appropriate renewal of membrane lipids may protect against the development of atherosclerosis. In GSD-I, the accumulation of Glc-6-P leads to enhanced radical detoxification and thereby increases the generation of “reducing”-equivalents. In contrast in both glucose-6-phosphate dehydrogenase deficiency and diabetes mellitus there is an impaired activity of the glutathione-peroxidase system and the NADPH2-generation pentose phosphate cycle which might predispose these patients for membrane damage thus leading to haemolysis, platelet activation and atherosclerosis.
    Type of Medium: Electronic Resource
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  • 16
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. S38 
    ISSN: 1432-1076
    Keywords: Key words: Lysosomal disorders – Screening
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Patients at any age who develop regression of learned skills, onset of dementia, loss of motor control and organ enlargement should be considered for lysosomal screening. Morphological and biochemical screening methods may reinforce the clinical suspicion, but they are not diagnostic. A widespread use of enzyme assays that appear to be related to the clinical problems is recommended.
    Type of Medium: Electronic Resource
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  • 17
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 18
    ISSN: 1432-1076
    Keywords: Key words Mitochondria ; Fatty acid oxidation ; LCHAD-deficiency ; Mitochondriopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a boy who suffered from microcephaly, growth retardation, cardiomyopathy and hepatic dysfunction. When he had his first febrile infection at the age of 3 months he showed metabolic decompensation. Laboratory parameters and clinical features were compatible with a β-oxidation defect or a respiratory chain disorder. Measurement of β-oxidation enzymes showed long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency; determination of respiratory chain complex activities revealed complete absence of complex I, II, III and IV activities in skeletal muscle and reduced activities of complexes II and IV in cultured fibroblasts, with secondary dysregulation of ATP synthase. The patient was found to be homozygous for the MTP:G1528 C mutation (LCHAD-deficiency). Conclusion This patient had LCHAD deficiency as his primary metabolic disorder, leading to secondary inhibition of respiratory chain enzymes by ‘toxic’ metabolites.
    Type of Medium: Electronic Resource
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  • 19
    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
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  • 20
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 522-525 
    ISSN: 1432-1076
    Keywords: Adolescent phenylketonuria ; Psychological characteristics ; Social findings ; Dietary control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a retrospective study, 34 early treated, normally intelligent adolescents with phenylketonuria (PKU) and their parents were tested with several psychometric personality inventories and self-developed questionaires concerning their psychosocial situation and their disease-and diet-specific knowledge. Results show that the patients are characterized by less autonomy, a more negative evaluation of their scholastic ability, less achievement motivation, less extraversion and impulsiveness, a feeling of not being quite healthy, more grave and a higher level of dependency from their families. The patients saw their whole social situation as being destinctly restricted. Their knowledge concerning disease and diet was alarmingly poor and the majority had great difficulties in managing the diet satisfactorily without parental help. Up to the age of 15 years the serum phenylalanine levels were persistently above the desired range.
    Type of Medium: Electronic Resource
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