McNutt Markey C
McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Mol Genet Metab Rep. 2024 Jul 14;39(Suppl 1):101121. doi: 10.1016/j.ymgmr.2024.101121. eCollection 2024 Aug.
A Black young adult female diagnosed with argininosuccinate lyase deficiency at 6 months of age encountered significant barriers to care for the first 16 years of her life due to socioeconomic factors and parental neglect. Once in the care of her paternal grandmother, she received appropriate treatment with a nitrogen scavenger, amino acid supplementation, and a low-protein diet. However, due to repeated hyperammonemic crises early in her life, she was minimally communicative and unable to perform activities of daily living. During her final hyperammonemic crisis, she presented to a hospital unfamiliar with urea cycle disorders and without a metabolic service. As a result, she did not receive optimal care and died.
一名6个月大时被诊断出患有精氨酸琥珀酸裂解酶缺乏症的黑人青年女性，在其生命的头16年里，由于社会经济因素和父母的忽视，在获得医疗护理方面遇到了重大障碍。在由她的祖母照顾后，她接受了氮清除剂、氨基酸补充剂和低蛋白饮食的适当治疗。然而，由于她早年反复出现高氨血症危机，她几乎无法交流，也无法进行日常生活活动。在她最后一次高氨血症危机期间，她前往一家不熟悉尿素循环障碍且没有代谢服务的医院就诊。结果，她没有得到最佳治疗，最终死亡。
