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ASS1 AR unreviewed

Citrullinaemia type I

Urea Cycle

Enzyme or protein defect

Argininosuccinate synthetase

Accumulates or becomes deficient

Citrulline

Key features

Hyperammonaemia, vomiting, encephalopathy

Management

Protein restriction, arginine, scavengers

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · from cache · sorted by publication date

  1. 1
    Neonatal Citrullinaemia Type I Complicated by Hyperinsulinaemic Hypoglycaemia: Challenges in Managing Dual Metabolic Pathways.

    Aras-Col T, Zubarioglu T, Uygur E, Akça-Yeşil S, Kırali-Sarı M, Altun İ, Bayramoğlu E, Göksoy E, Anık A, Kıyk… · 2026-08-08

    unreviewed
  2. 2
    Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

    Gonçalves MM, Marcão A, Sousa C, Nogueira C, Fonseca H, Rocha H, Vilarinho L. · 2024-03-20

    cited 6× open access unreviewed
  3. 3
    Abstracts 2022: 35th Annual Symposium Arbeitsgemeinschaft Pädiatrische Stoffwechselstörungen (APS; Society for Pediatric Metabolic Medicine)

    · 2022-09-28

    open access unreviewed
  4. 4
    Modelling urea cycle disorders using iPSCs.

    Duff C, Baruteau J. · 2022-09-26

    cited 13× open access unreviewed
  5. 5
    Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.

    Loeber JG, Platis D, Zetterström RH, Almashanu S, Boemer F, Bonham JR, Borde P, Brincat I, Cheillan D, Dekker… · 2021-03-05

    cited 178× open access unreviewed
  6. 6
    Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study.

    Yang Y, Wang L, Wang B, Liu S, Yu B, Wang T. · 2019-02-14

    cited 48× open access unreviewed
  7. 7
    25th Annual Meeting of the German Society of Newborn Screening.

    Konstantopoulou V, Zeyda M. · 2018-06-04

    cited 3× open access unreviewed
  8. 8
    The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.

    Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen MC, Lachmann R, Langendonk J, Scarpelli M, Ben Omr… · 2015-10-09

    cited 44× unreviewed
  9. 9
    Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.

    Rabinovich S, Adler L, Yizhak K, Sarver A, Silberman A, Agron S, Stettner N, Sun Q, Brandis A, Helbling D, Ko… · 2015-11-11

    cited 330× open access unreviewed
  10. 10
    Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

    Al-Shamsi A, Hertecant JL, Al-Hamad S, Souid AK, Al-Jasmi F. · 2014-01-27

    cited 32× unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.