AI Article Synopsis

  • Argininosuccinic aciduria (ASA) is a genetic disorder caused by a deficiency in the enzyme argininosuccinate lyase, leading to hyperammonemia and various symptoms like lethargy and neurocognitive issues.
  • Treatment focuses on quickly addressing high ammonia levels and ensuring long-term metabolic stability, while also taking into account the patient's social determinants of health.
  • The case study highlights a male pediatric patient with ASA, whose management plan factors in challenges related to his family's refugee status, language barriers, and economic struggles.

Article Abstract

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11412918PMC
http://dx.doi.org/10.1016/j.ymgmr.2024.101108DOI Listing

Publication Analysis

Top Keywords

urea cycle
8
language barriers
8
management urea
4
cycle disorder
4
disorder setting
4
setting socioeconomic
4
socioeconomic language
4
barriers argininosuccinic
4
argininosuccinic aciduria
4
aciduria asa
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!