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ASL AR unreviewed

Argininosuccinic aciduria

Urea Cycle Argininosuccinate lyase

Enzyme or protein defect

Argininosuccinate lyase

Accumulates or becomes deficient

Argininosuccinate

Key features

Hyperammonaemia, trichorrhexis nodosa (brittle hair)

Management

Arginine supplementation, 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 · fetched just now · sorted by publication date

  1. 1
    Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case.

    Zribi M, Bhouri M, Khatrouch S, Boudabous H, Häberle J, Abdelmoula MS, Chehida AB. · 2026-10-04

    open access unreviewed
  2. 2
    <i>S</i>-Nitrosylation of glycogen phosphorylase regulates nuclear glycogenolysis and is impaired in metabolic liver disorders.

    Soria LR, D'Alessio AM, Casertano V, Polishchuk E, Pasquadibisceglie A, Boffa I, Diana A, De Cegli R, De Stef… · 2026-10-02

    open access unreviewed
  3. 3
    Experiences and Information Needs of Families of Children With Organic Acid or Fatty Acid Metabolism Disorders in Japan.

    Kaneko M, Harada K, Takeuchi C, Kawame H. · 2026-10-01

    unreviewed
  4. 4
    Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study.

    Kowalik A, Głąb-Jabłońska E, Taybert J, Nogalska M, Sasin-Rokita M, Chełchowska M, Myszkowska-Ryciak J, Sykut… · 2026-09-16

    open access unreviewed
  5. 5
    Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

    Veraldi S, Basso MS, Soglia G, Cirelli R, Spagnoletti G, Bernabei SM, Esposito A, Rizzo C, Cairoli S, Martine… · 2026-09-01

    cited 1× unreviewed
  6. 6
    Sub-stoichiometric 5-methoxyuridine modification enables tunable immune evasion and protein expression from synthetic mRNAs.

    Miles JR, Masterson S, Bellows E, Fisher F, Rani R, Marelli S, Hardman C, Grassi L, Santos L, James V, Mongan… · 2026-08-12

    open access unreviewed
  7. 7
    Current status in paediatric liver transplantation for inherited metabolic diseases.

    Hadzic N, Dionisi-Vici C, Vara R. · 2026-06-22

    unreviewed
  8. 8
    The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening.

    García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, … · 2026-08-13

    open access unreviewed
  9. 9
    Clinical, Biochemical, and Molecular Analyses of Three Patients with Urea Cycle Disorders in China.

    Ma S, Zhang M, Cui F, Zhu A, Wang X, Niu Y. · 2026-07-01

    unreviewed
  10. 10
    Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD).

    Chan HY, Wong R, Fung CW, Belaramani KM, Mak CM, Yeung M, Chan T, Yeung C, Kwok Y, Kwok AM. · 2026-07-22

    open access unreviewed

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