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Argininosuccinic aciduria

Argininosuccinic acidemia is an autosomal recessive disorder characterized by hight levels of argininosuccinic acis and ammonia in blood. The therapy includes protein restriction.

Epidemiology

The prevalence is approximately 1 in 70,000 live births.

Systematic

Urea cycle disorders
Argininosuccinic aciduria
ASL
Citrullinemia
Citrullinemia type 2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Ornithine aminotransferase deficiency
Ornithine carbamoyltransferase deficiency

References:

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.

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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16.

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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17.

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

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18.

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

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19.

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

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20.

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

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21.

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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22.

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

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23.

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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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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29.

OMIM.ORG article

Omim 207900 external link
30.

Orphanet article

Orphanet ID 23 external link
31.

Wikipedia article

Wikipedia EN (Argininosuccinic_aciduria) external link
Update: Aug. 14, 2020
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