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Hyperargininämie mit Arginasedefekt Eine neue familiäre Stoffwechselstörung

I. Klinische Befunde

Hyperargininemia with arginase deficiency a new familial metabolic disease

I. Clinical studies

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Summary

The present paper reports on two cases of a congenital metabolic disease which involves an enzyme defect in the urea cycle. A low level of arginase activity, demonstrated in blood cell hemolysates, results in an accumulation of arginine in the serum and cerebrospinal fluid. The increased excretion of arginine with the urine classifies this biochemical abnormality as an overflow amino acidurina. The main clinical features are convulsions presenting themselves together with febrile illnesses, periodical vomiting, mental and locomotor retardation, spasticity, paresis, ataxia, tremors, electroencephalographic dysrhythmia, and hepatopathia. All these features are possibly due to an ammonia intoxication, which is caused by a defect in arginase, one of the enzymes which mediates the metabolism of the urea cycle. Because of a normal urea concentration in the serum it is suggested that this defect is only a partial one. High ammonia levels in serum and cerebrospinal fluid can be reduced by a low-protein diet. The locomotor development of the two affected girls progressed under physiotherapeutic treatment (special gymnastic, method after Vojta).

Zusammenfassung

Es wird über eine neue angeborene Stoffwechselstörung berichtet. Es handelt sich dabei um einen Enzymdefekt im Harnstoffcyclus. Die Verminderung der Arginaseaktivität, nachgewiesen im Erythrocytenhämolysat, führt zu einem Anstieg des Arginins im Serum und Liquor. Die vermehrte Ausscheidung von Arginin im Urin charakterisiert die Störung als Aminoacidurie vom Überfließtyp. Führende klinische Symptome sind hirnorganische Anfälle, die sich zumeist als Fieberkrämpfe manifestieren, periodisches Erbrechen, eine psychomotorische Retardierung, spastische Paresen, Ataxie, Tremor, eine Hepatopathie sowie eine Dysrhythmie im Elektroencephalogramm. Ursache der klinischen Erscheinungen ist moglicherweise die als Folge des Enzymdefektes aufgetretene Hyperammonämie. Die normalen Harnstoffwerte im Serum sprechen dafür, daß der Enzymdefekt nur partiell ist. Die erhöhten Ammoniakwerte im Serum und Liquor konnten durch eine eiweißarme Diät gesenkt werden. Die motorische Entwicklung der beiden Patienten wurde durch eine krankengymnastische Behandlung nach Vojta günstig beeinflußt.

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Authors and Affiliations

  1. Universitäts-Kinderklinik Köln, Köln, Deutschland

    H. G. Terheggen, A. Schwenk, A. Lowenthal, M. van Sande & J. P. Colombo

  2. Département de Neurochimie, Fondation Born-Bunge, Berchem-Antwerpen

    H. G. Terheggen, A. Schwenk, A. Lowenthal, M. van Sande & J. P. Colombo

  3. Chemisches Zentrallabor, Inselspital Bern, Bern, Deutschland

    H. G. Terheggen, A. Schwenk, A. Lowenthal, M. van Sande & J. P. Colombo

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  3. A. Lowenthal
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  5. J. P. Colombo
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Terheggen, H.G., Schwenk, A., Lowenthal, A. et al. Hyperargininämie mit Arginasedefekt Eine neue familiäre Stoffwechselstörung. Z. Kinder-Heilk. 107, 298–312 (1970). https://doi.org/10.1007/BF00438892

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  • DOI: https://doi.org/10.1007/BF00438892

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