| Autor: |
Alex Michael, Müller-Marbach, V, Keitel, T, Göbel, B-E, Jensen, S, Göbels, C, Baur, S, Schneitler, V, Schneitler, P, Behm, M, Becker, C, Brinkmeyer, M, Foede, F, Hüttig, M, Beyer, M, Breuer, S, Filke, C, Giesecke, U, Haars, J, Haes, U, Heinzel-Pleines, S, Kann, S J, Kocheril, S, Mallach, C, Sagert, N, Qvartskhava, R, Winzer, M G, Donner |
| Jazyk: |
němčina |
| Rok vydání: |
2011 |
| Předmět: |
|
| Zdroj: |
Zeitschrift fur Gastroenterologie. 49(12) |
| ISSN: |
1439-7803 |
| Popis: |
Urea cycle defects belong to the most common metabolic disorders with a cumulative incidence of 1:8000. A common trait of urea cycle defects is a disturbed detoxification of ammonia leading to hyperammonemia in the event of a high nitrogen load. Most patients develop symptoms in the neonatal period or in infancy, e. g. vomiting, seizures and disturbed consciousness. Depending on the affected enzyme and its residual activity, patients differ in the age at first presentation, the character and severity of symptoms and in the susceptibility to metabolic derangement. The presence of hyperammonemia and an altered plasma amino acid profile give the essential diagnostic clues. Since modern therapeutic measures have prolonged the life expectancy of these patients and provided the possibility of a first presentation in adulthood, patients with urea cycle defects have become an increasing challenge in internal medicine. The reported case series illustrates the heterogeneous clinical course of these disorders from childhood to adulthood. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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