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  • 1
    Electronic Resource
    Electronic Resource
    Clinical outcome and long-term management of 17 patients with propionic acidaemia (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 205-210 
    Details
    ISSN: 1432-1076
    Keywords: Propionic acidaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A retrospective study was performed on the clinical outcome and long-term treatment of 17 patients with propionic acidaemia diagnosed during the last 20 years in our hospital. The study group consisted of 12 patients with early onset type of disease and 5 patients with late onset. Seven (41%) patients died, five with early onset and two with late onset. The deceased early onset patients had a median survival of 0.4 years while the deceased late onset patients died at the age of 2.8 and 4 years respectively. Median age of the living early onset patients was 5.2 (1–9.25) years, the late onset patients were 4,7 and 23 years old. Patients were all treated with natural protein restriction and in most cases carnitine and metronidazole were added. The early onset patients were almost all treated with daily home tube feeding. The mean natural protein intake of early onset patients (6.3±1.5 g/day) was significantly lower than the natural protein intake of late onset patients (17.6±5.3 g/day). Supplemental protein intake was higher in early onset patients. The general neurological outcome of our study group was satisfactory with a better outcome for early onset patients. As to growth, many patients showed a failure to thrive, this was particularly for height. The strong protein restriction during the first years of life probably contributed to this. Conclusion The prognosis for patients with propionic acidaemia appeared to be satisfactory in terms of survival and outcome characteristics such as neurological and mental development. Despite these results the authors feel that the prognosis and quality of life of these patients might be improved with liver transplantation or possibly somatic gene therapy in the future.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01953939
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  • 2
    Electronic Resource
    Electronic Resource
    Brain uptake of 11C-methionine in phenylketonuria (1981)
    Springer
    European journal of pediatrics 136 (1981), S. 13-19 
    Details
    ISSN: 1432-1076
    Keywords: Blood-brain-barrier ; 11C-methionine ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The brain uptake of 11C-methionine was studied in 26 children with classical phenylketonuria; one adult was used as a control. Labelled methionine uptake in brain was first measured during a low phenylalanine diet and again one week later after a load of phenylalanine. Ten children aged 1 to 30 months were studied twice at intervals of several months. In children having a phenylalaninemia ≥0.3 μmoles · ml−1, a decrease in methionine brain uptake was observed with increasing age, with the largest change occuring during the first year of life. After the phenylalanine load, a mean increase in phenylalaninemia by a factor of ten was accompanied by a mean decrease in brain methionine uptake by a factor of two while blood methionine remained unchanged. Brain activity curves increased with time for children younger than one year and having phenylalaninemia 〈0.6 μmoles · ml−1. After the age of 2 most patients had a decreasing curve regardless of the blood phenylalanine level. This study indicates that 11C-methionine brain uptake may be taken as an index of blood brain barrier permeability to essential amino acids, and of brain maturation. The results obtained suggest that an increase in phenylalaninemia to levels greater than 0.6 μmole · ml−1 induces a modification in brain uptake of amino acids, primarily during the first two years of life.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441705
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  • 3
    Electronic Resource
    Electronic Resource
    Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement (2000)
    Springer
    Journal of inherited metabolic disease 23 (2000), S. 45-53 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report an attempt at dietetic therapy in two unrelated patients with isolated sulphite oxidase deficiency, with a mild clinical course and late onset of symptoms. In case 1, disease started at 15 months with an acute crisis of agitation, unexplained crying and restlessness following otitis. Case 2 was diagnosed at 10 months when she presented with slight motor delay and dislocation of lenses. In both cases, sulphite oxidase activity measured in fibroblasts was undetectable. Therapy consisted of a diet low in protein from natural foods (daily methionine intake 130–150 mg) and a synthetic amino acid mixture (50 g per day) without cystine and methionine (Xmet, Cys Maxamaid, SHS International Ltd). A comparison of clinical and biochemical parameters was made between the period before treatment and after 2 years of treatment. Restriction in protein and sulphur amino acids brought about a dramatic decrease of urinary thiosulphate and S-sulphocysteine. It also brought about a generalized hypoaminoacidaemia with a low plasma methionine and cystine in both patients. Furthermore, both patients grew normally with no signs of neurological deterioration, and there was evidence of progress in psychomotor development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005646813492
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    Paper (German National Licenses)
    Fulltext
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