ArticleMolecular genetics and metabolism reports2020
Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model.Biomedicines · 2023Article
- Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia.JIMD reports · 2021Article
- Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue.Frontiers in neurology · 2021Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hyperammonemia is a typical symptom of urea cycle disorders. While early-onset argininosuccinic aciduria (ASA) can often be detected by hyperammonemia, patients with late-onset ASA predominantly present with psychomotor retardation and mental disorders. However, in late-onset ASA that develops during early childhood, hyperammonemia can sometimes be caused by acute infections, stress, and reduced dietary intake. Here, we report the case of a 14-year-old boy with late-onset ASA associated with hyperammonemia that was triggered by an influenza A infection. Due to the infection, he presented with a fever and was unable to eat food or take oral medication. He then experienced restlessness, a disturbance in his level of consciousness, and seizures. Hyperammonemia (3286 μg/dL, reference value ≤100 μg/dL) was detected. He was biochemically diagnosed with ASA based on increased serum and urinary argininosuccinic acid levels. Additionally, genetic testing revealed compound heterozygous mutations in the
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