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Argininbernsteinsäure-Krankheit

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.

Epidemiologie

Die Prävalenz beträgt etwa 1 in 70.000 Lebendgeborenen.

Gliederung

Störungen des Harnstoffzyklus
Argininbernsteinsäure-Krankheit
ASL
Citrullinämie
Citrullinämie Typ 2
Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom
Ornithincarbamoyltransferase-Mangel
Ornithine-Aminotransferase-Mangel

Referenzen:

1.

Kleijer WJ et al. (2002) Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

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2.

Brusilow SW et al. (1979) Arginine therapy of argininosuccinase deficiency.

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3.

Collins FS et al. (1980) Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management.

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4.

Cathelineau L et al. (1981) Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.

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5.

Böhles H et al. (1978) Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.

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6.

McInnes RR et al. (1984) Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.

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7.

Qureshi IA et al. (1978) Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria.

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8.

Moser HW et al. (1967) Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia.

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9.

None (1967) Arginosuccine aciduria.

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10.

Coryell ME et al. (1964) A familial study of a human enzyme defect, argininosuccinic aciduria.

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11.

Lewis PD et al. (1970) Argininosuccinic aciduria. Case report with neuropathological findings.

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12.

Fleisher LD et al. (1979) Argininosuccinic aciduria: prenatal studies in a family at risk.

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13.

Goodman SI et al. (1973) Antenatal diagnosis of argininosuccinic aciduria.

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14.

Kint J et al. (1968) Deficient argininosuccinase activity in brain in argininosuccinicaciduria.

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15.

Simard L et al. (1986) Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting.

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16.

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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17.

None (2013) Argininosuccinic aciduria: from a monogenic to a complex disorder.

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18.

Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

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19.

Kvedar JC et al. (1991) Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency.

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20.

Glick NR et al. (1976) Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.

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21.

Widhalm K et al. (1992) Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy.

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22.

LEVIN B et al. (1961) Argininosuccinic aciduria, an inborn error of amino acid metabolism.

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23.

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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24.

van der Heiden C et al. (1976) Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.

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25.

Walker DC et al. (1990) Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

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26.

Nagamani SC et al. (2012) Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.

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27.

Trevisson E et al. (2007) Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

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28.

Linnebank M et al. (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.

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29.

OMIM.ORG article

Omim 207900 external link
30.

Orphanet article

Orphanet ID 23 external link
Update: 14. August 2020
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