Vucko Erika, Baker Joshua, Becker Karen, Havens Kirsten, Arduini Katherine, Shim Soo
Division of Genetics, Genomics & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Ave, Chicago, IL 60611, USA.
Department of Pediatrics (Genetics, Genomics, and Metabolism), Northwestern University Feinberg School of Medicine, 420 E Superior St, Chicago, IL 60611, USA.
Mol Genet Metab Rep. 2024 Jun 25;39(Suppl 1):101108. doi: 10.1016/j.ymgmr.2024.101108. eCollection 2024 Aug.
Argininosuccinic aciduria (ASA) is a disorder that results from a deficiency in the urea cycle enzyme argininosuccinate lyase. Variable manifestations of this hereditary disorder are associated with hyperammonemia and can include lethargy, somnolence, and respiratory alkalosis in neonates, and vomiting, headaches, and neurocognitive deficiencies later in life. Management of ASA includes rapid measures to address hyperammonemia and long-term steps to maintain metabolic stability. Management paradigms should also consider social determinants of health, which are non-medical factors that influence health outcomes. Here, we describe the case of a male pediatric patient with ASA whose treatment has included considerations for his family's refugee status, language barriers, cultural adjustments, limited income, and transportation challenges.
精氨酸琥珀酸尿症（ASA）是一种由于尿素循环酶精氨酸琥珀酸裂解酶缺乏而导致的疾病。这种遗传性疾病的表现多样，与高氨血症有关，在新生儿中可表现为嗜睡、昏睡和呼吸性碱中毒，在生命后期可出现呕吐、头痛和神经认知缺陷。ASA的治疗包括迅速采取措施解决高氨血症问题以及采取长期措施维持代谢稳定。治疗模式还应考虑健康的社会决定因素，这些是非医学因素，会影响健康结果。在此，我们描述了一名患有ASA的男性儿科患者的病例，其治疗过程考虑了其家庭的难民身份、语言障碍、文化适应、收入有限和交通困难等因素。
