Argininosukzinurie ist eine autosomal rezessive Erkrankung des Harnstoffzyklus, die durch einen erhöhtes Ammoniak und Argininsukzinat im Blut gekennzeichnet ist.Die Therapie besteht in einer proteinarmen Diät.
Die Prävalenz beträgt etwa 1 in 70.000 Lebendgeborenen.
2. |
Brusilow SW et al. (1979) Arginine therapy of argininosuccinase deficiency. ![]() |
3. |
Collins FS et al. (1980) Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. ![]() |
4. |
Cathelineau L et al. (1981) Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. ![]() |
5. |
Böhles H et al. (1978) Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids. ![]() |
6. |
McInnes RR et al. (1984) Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. ![]() |
7. |
Qureshi IA et al. (1978) Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. ![]() |
8. |
Moser HW et al. (1967) Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. ![]() |
9. |
None (1967) Arginosuccine aciduria. ![]() |
10. |
Coryell ME et al. (1964) A familial study of a human enzyme defect, argininosuccinic aciduria. ![]() |
11. |
Lewis PD et al. (1970) Argininosuccinic aciduria. Case report with neuropathological findings. ![]() |
12. |
Fleisher LD et al. (1979) Argininosuccinic aciduria: prenatal studies in a family at risk. ![]() |
13. |
Goodman SI et al. (1973) Antenatal diagnosis of argininosuccinic aciduria. ![]() |
14. |
Kint J et al. (1968) Deficient argininosuccinase activity in brain in argininosuccinicaciduria. ![]() |
15. |
Simard L et al. (1986) Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting. ![]() |
16. |
Pijpers L et al. (1990) Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. ![]() |
17. |
None (2013) Argininosuccinic aciduria: from a monogenic to a complex disorder. ![]() |
18. |
Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. ![]() |
19. |
Kvedar JC et al. (1991) Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. ![]() |
20. |
Glick NR et al. (1976) Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. ![]() |
22. |
LEVIN B et al. (1961) Argininosuccinic aciduria, an inborn error of amino acid metabolism. ![]() |
23. |
ALLAN JD et al. (1958) A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. ![]() |
24. |
van der Heiden C et al. (1976) Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship. ![]() |
25. |
Walker DC et al. (1990) Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. ![]() |
26. |
Nagamani SC et al. (2012) Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. ![]() |
27. |
Trevisson E et al. (2007) Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. ![]() |
28. |
Linnebank M et al. (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. ![]() |
29. |
OMIM.ORG article Omim 207900![]() |
30. |
Orphanet article Orphanet ID 23![]() |