Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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13.

Erez A et al. (2013) Argininosuccinic aciduria: from a monogenic to a complex disorder.

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14.

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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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

Levin B et al. (1967) Arginosuccine aciduria.

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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