tetano
Editor, Senior Moderator
Mol Genet Metab Rep
. 2020 May 15;24:100605.
doi: 10.1016/j.ymgmr.2020.100605. eCollection 2020 Sep.
Late-onset Argininosuccinic Aciduria Associated With Hyperammonemia Triggered by Influenza Infection in an Adolescent: A Case Report
Yoshimitsu Osawa[SUP] 1 2 [/SUP], Aya Wada[SUP] 1 [/SUP], Yoshiaki Ohtsu[SUP] 1 [/SUP], Kenji Yamada[SUP] 2 [/SUP], Takumi Takizawa[SUP] 1 [/SUP]
Affiliations
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 ASL gene: c.91G > A(p.Asp31Asn) and c.1251-1G > C. This case revealed that in late-onset ASA, hyperammonemia can occur not only in early childhood but also during adolescence. Late-onset ASA may have a very broad clinical spectrum that includes hyperammonemia. We suggest that urea cycle disorders such as ASA must be considered when patients present with hyperammonemic decompensation during adolescence.
Keywords: ASA, argininosuccinic aciduria; ASL, argininosuccinate lyase; Adolescence; Argininosuccinic acid lyase deficiency; Argininosuccinic aciduria; Hyperammonemia; Influenza A; Late-onset.
. 2020 May 15;24:100605.
doi: 10.1016/j.ymgmr.2020.100605. eCollection 2020 Sep.
Late-onset Argininosuccinic Aciduria Associated With Hyperammonemia Triggered by Influenza Infection in an Adolescent: A Case Report
Yoshimitsu Osawa[SUP] 1 2 [/SUP], Aya Wada[SUP] 1 [/SUP], Yoshiaki Ohtsu[SUP] 1 [/SUP], Kenji Yamada[SUP] 2 [/SUP], Takumi Takizawa[SUP] 1 [/SUP]
Affiliations
- PMID: 32435591
- PMCID: PMC7232106
- DOI: 10.1016/j.ymgmr.2020.100605
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 ASL gene: c.91G > A(p.Asp31Asn) and c.1251-1G > C. This case revealed that in late-onset ASA, hyperammonemia can occur not only in early childhood but also during adolescence. Late-onset ASA may have a very broad clinical spectrum that includes hyperammonemia. We suggest that urea cycle disorders such as ASA must be considered when patients present with hyperammonemic decompensation during adolescence.
Keywords: ASA, argininosuccinic aciduria; ASL, argininosuccinate lyase; Adolescence; Argininosuccinic acid lyase deficiency; Argininosuccinic aciduria; Hyperammonemia; Influenza A; Late-onset.