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  • 1
    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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  • 2
    Electronic Resource
    Electronic Resource
    Selenium intake of infants and young children, healthy children and dietetically treated patients with phenylketonuria (1984)
    Springer
    European journal of pediatrics 143 (1984), S. 99-102 
    Details
    ISSN: 1432-1076
    Keywords: Selenium ; Intake ; Children ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 20 healthy infants and children, 5–20 months old, the Se intake was estimated by analysing food samples by instrumental neutron activation analysis. The intake was calculated by weighing the portions offered and actually consumed. The median Se content of the food amounted to 27 ng/g wet weight (gww) and median daily Se intake to 33.5 μg. The Se intake was not equally distributed over the day. About 50% of the daily Se intake was derived from the supper. The main Se sources (41%) for young children were cereal paps. Commercially, available meals (30 ng/g) contained less Se than home-made ones (50 ng/g). In nine dietetically treated patients with phenylketonuria the median Se intake amounted only to 6.9 μg/day corresponding to a mean Se content of the diet of 7.9 ng/g. The main Se source in the diet was vegetables (36.3%) and 20% derived from their protein supplements. The Se intake of young children, healthy or dietetically treated, cannot be calculated accurately from tables but must be estimated by measuring the Se content of the local food because cereals and vegetables-the main Se sources-exhibit great regional variations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445794
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  • 3
    Electronic Resource
    Electronic Resource
    Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: a new genetic disease? (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 398-403 
    Details
    ISSN: 1432-1076
    Keywords: Key words Methylmalonic ; aciduria ; Vitamin B12 ; GABA ; Cerebrospinal fluid ; Encephalomyelopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on two siblings, a girl of 7 years and a boy of 2 years, who presented in infancy with hypotonia, athetoid movements, myopathy and severe developmental delay. The progressive clinical course was characterized by ophthalmoplegia, pyramidal tract signs, loss of visual contact and failure to thrive. The older sister died at the age of 7 years. The younger brother followed an almost identical clinical course. MRI of the brain revealed bilateral hypodensities and atrophy of the putamen. Neurophysiological investigations were consistent with peripheral neuropathy. Investigations for neurometabolic disorders in urine, plasma and CSF of both patients revealed a consistent increase of methylmalonic acid in urine, plasma and CSF as well as borderline low free GABA in CSF. Except for an inconstant elevation of lactate in the boy, metabolic acidosis, hypoglycaemia, episodic ketoacidosis, or hyperammonaemia, the usual concomitants of organoacidopathies, were absent in both children. Homocystinuria was excluded. Methylmalonic aciduria did not respond to antibiotic treatment, vitamin B12 therapy nor dietary protein restriction. Incorporation of [14C]propionate into protein in cultured fibroblasts was pathologically but inconsistently decreased. Both patients’ cell lines showed only minimal response to hydroxocobalamin and normal methylmalonyl-CoA mutase activity. Conclusion Even though the definitive underlying enzymatic defect in this sibship remains obscure our results suggest a new genetic disorder. This report illustrates that hitherto undescribed metabolic disorders remain to be elucidated even in long investigated areas of intermediary metabolism such as methylmalonic aciduria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955272
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  • 4
    Electronic Resource
    Electronic Resource
    Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: A new genetic disease? (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 398-403 
    Details
    ISSN: 1432-1076
    Keywords: Methylmalonic aciduria ; Vitamin B12 ; GABA ; Cerebrospinal fluid ; Encephalomyelopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on two siblings, a girl of 7 years and a boy of 2 years, who presented in infancy with hypotonia, athetoid movements, myopathy and severe developmental delay. The progressive clinical course was characterized by ophthalmoplegia, pyramidal tract signs, loss of visual contanct and failure to thrive. The older sister died at the age of 7 years. The younger brother followed an almost identical clinical course. MRI of the brain revealed bilateral hypodensities and atrophy of the putamen. Neurophysiological investigations were consistent with peripheral neuropathy. Investigations for neurometabolic disorders in urine, plasma and CSF of both patients revealed a consistent increase of methylmalonic acid in urine, plasma and CSF as well as borderline low free GABA in CSF. Except for an inconstant elevation of lactate in the boy, metabolic acidosis, hypoglycaemia, episodic ketoacidosis, or hyperammonaemia, the usual concomitants of organoacidopathies, were absent in both children. Homocystinuria was excluded. Methylmalonic aciduria did not respond to antibiotic treatment, vitamin B12 therapy nor dietary protein restriction. Incorporation of [14C]propionate into protein in cultured fibroblasts was pathologically but inconsistently decreased. Both patients' cell lines showed only minimal response to hydroxocobalamin and normal methylmalonyl-CoA mutase activity. Conclusion Even though the definitive undorlying enzymatic defect in this sibship remains obscure our results suggest a new genetic disorder. This report illustrates that hitherto undescribed metabolic disorders remain to be elucidated even in long investigated areas of intermediary metabolism such as methylmalonic aciduria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955272
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    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Comparison of the protein quality of dietetically treated phenylketonuria patients with the recommendations of the WHO Expert Consultation (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S153 
    Details
    ISSN: 1432-1076
    Keywords: Key words Protein quality ; Dietetic treatment ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The protein quality of the diets of phenylketonuria (PKU) children of different ages (3 months, 10 months, 3 years, 8 years, 12 years, 16 years) with low or high phenylalanine (Phe) tolerance was assessed according to the recommendations of the FAO/WHO consultation group [13]. The amount of each essential amino acid (AA) per gram dietary protein was calculated and compared to the reference. The resultant amino acid score (AAS) indicated a limited to inadequate biological protein quality of the diets in 3-month-old infants (2.2 g protein/kg body weight/day) and 10-month-old infants (2.0 g protein/kg body weight/day) with a “high” Phe tolerance. In all other age groups the AAS was 〉 100%. However remarkable imbalances in the AA pattern were apparent. Beginning with the age of 3 years (1.7 g protein/kg body weight/day) the intake of the AA lysine and isoleucine was three or two times higher than recommended. At the age of 8 years (1.4 g protein/kg body weight/day) the intake of three AA (valine, isoleucine, lysine) was – related to the WHO recommendations – 217%, 229% and 291%. Similar results could be found in the age groups of 12 years (1.1 g protein/kg body weight/day) and 16 years (0.9 g protein/kg body weight/day), respectively. These calculations might help to reconsider the composition of the AA mixtures used in the dietetic treatment of PKU patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014235
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