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.
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Brusilow SW et al. (1979) Arginine therapy of argininosuccinase deficiency. |
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Collins FS et al. (1980) Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. |
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Cathelineau L et al. (1981) Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. |
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Böhles H et al. (1978) Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids. |
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Qureshi IA et al. (1978) Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. |
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Moser HW et al. (1967) Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. |
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None (1967) Arginosuccine aciduria. |
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Coryell ME et al. (1964) A familial study of a human enzyme defect, argininosuccinic aciduria. |
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Lewis PD et al. (1970) Argininosuccinic aciduria. Case report with neuropathological findings. |
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Fleisher LD et al. (1979) Argininosuccinic aciduria: prenatal studies in a family at risk. |
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Goodman SI et al. (1973) Antenatal diagnosis of argininosuccinic aciduria. |
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Kint J et al. (1968) Deficient argininosuccinase activity in brain in argininosuccinicaciduria. |
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Simard L et al. (1986) Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting. |
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Pijpers L et al. (1990) Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. |
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None (2013) Argininosuccinic aciduria: from a monogenic to a complex disorder. |
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Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. |
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Kvedar JC et al. (1991) Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. |
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Glick NR et al. (1976) Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. |
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LEVIN B et al. (1961) Argininosuccinic aciduria, an inborn error of amino acid metabolism. |
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ALLAN JD et al. (1958) A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. |
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van der Heiden C et al. (1976) Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship. |
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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 |
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Orphanet article Orphanet ID 23 |