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
Europe PMC · fetched just now · sorted by publication date
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1
Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.
Yahyaoui R, Quijada-Fraile P, Blasco-Alonso J, Vives I, Gil Ortega D, Couce ML, Sánchez-Pintos P, García Jimé… · 2026-06-18
open access unreviewed -
2
A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.
Lee T, Matsui M, Yokoyama Y, Bo R, Awano H, Kataoka D, Ueda M, Minato T, Kobayashi H, Hasegawa Y, Murayama K,… · 2026-06-04
open access unreviewed -
3
Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction.
Mujamammi AH. · 2026-05-13
open access unreviewed -
4
Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category.
Matsumoto Y, Kushihashi Y, Suwa A, Tajima G. · 2026-05-06
open access unreviewed -
5
Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.
Coughlin CR, Barber J, Murali CN, Members of the Urea Cycle Disorders Consortium (UCDC), Wilkening G. · 2026-05-01
open access unreviewed -
6
Pediatric liver transplantation for inherited metabolic disease-Current challenges.
Vara R, Hadzic N. · 2026-03-06
open access unreviewed -
7
Good Manufacturing Practice-Derived Human Liver Stem Cell Extracellular Vesicles Attenuate Liver Fibrosis In Vivo.
Ceccotti E, Dimuccio V, Pasquino C, Cedrino M, Herrera Sanchez MB, Grange C, Figliolini F, Nicolò G, Antico F… · 2026-04-09
open access unreviewed -
8
Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.
Zakharova EY, Baydakova GV, Baranova PV, Aleksandrova DY, Shchagina OA, Itkis YS, Milovanova NV, Nagornova TS… · 2026-03-02
open access unreviewed -
9
Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience.
Özsaydi Aktaşoğlu E, Akyüz A, Gökalp S, Altun AN, Demi̇r F, Gönen E, Soysal Acar AŞ, İnci̇ A, Okur İ, Ezgü FS… · 2026-03-24
open access unreviewed -
10
Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.
Posset R, Epp F, Garbade SF, Gleich F, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M. · 2026-03-18
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.