Andrews Ashley, McMinimee Kate
The University of Utah, 30 N Mario Capecchi Dr, Salt Lake City, UT 84112, USA.
Mol Genet Metab Rep. 2024 May 3;39(Suppl 1):101080. doi: 10.1016/j.ymgmr.2024.101080. eCollection 2024 Aug.
Phenylketonuria (PKU) is an inborn error of amino acid metabolism that is typically identified by newborn screening. With lifelong treatment consisting of dietary management, frequent laboratory monitoring, and regular metabolic clinic visits, patients with PKU can maintain good health and metabolic control. Here, we describe the case of an 8-year-old patient with PKU who has been followed by a metabolic clinic since birth. Despite responsiveness to sapropterin, this patient has had periods of poor metabolic control throughout her life due to her family's economic hardships, including limited access to transportation, housing, food, and health insurance. This case illustrates how social determinants of health may negatively affect rare disease management and potential strategies for addressing barriers to care.
苯丙酮尿症（PKU）是一种氨基酸代谢的先天性疾病，通常通过新生儿筛查来确诊。通过包括饮食管理、频繁的实验室监测和定期到代谢门诊就诊的终身治疗，PKU患者可以保持良好的健康状态和代谢控制。在此，我们描述了一名自出生起就由代谢门诊随访的8岁PKU患者的病例。尽管对四氢生物蝶呤有反应，但由于家庭经济困难，包括交通、住房、食物和医疗保险受限，该患者一生中仍有代谢控制不佳的时期。这个病例说明了健康的社会决定因素可能如何对罕见病管理产生负面影响，以及应对护理障碍的潜在策略。
