Megdadi Noor, Alakil Mo'men, Ghanmiyin Lina, Maaita Omar, Abulannaz Amjad
Department of Pediatrics, Royal Medical Services, Amman, JOR.
Cureus. 2024 Jan 10;16(1):e52039. doi: 10.7759/cureus.52039. eCollection 2024 Jan.
Isovaleric acidemia (IVA) was the first condition to be recognized as an organic acid disorder. It is marked by metabolic ketoacidosis with an unexplained anion gap. This study examines IVA in Jordan, laying the groundwork for future studies. Furthermore, it seeks to enhance the understanding of clinical characteristics and outcomes in affected individuals.
This case series study includes all isovaleric acidemia diagnoses at the metabolic unit of the Queen Rania Al Abdullah Hospital for Children (QRHC) in Amman, Jordan, from 2010 to 2023. The study encompassed sociodemographic features, clinical and laboratory results, familial history, and parental consanguinity.
Our cohort was composed of 21 individuals (10 males and 11 females), who presented IVA at an average age of 3.1 years. Positive family history and parental consanguinity were observed in 23.8% and 75% of the cases, respectively. Vomiting was the most prevalent symptom (57.1%), and encephalopathy occurred in 33.3%. Laboratory results showed acidosis (81%), hyperammonemia (71.4%), and hypoglycemia (14.3%).
The early initiation of treatment for organic acid disorders carries a more favorable prognosis. Therefore, we strongly recommend for implementing newborn screening to overcome diagnostic challenges and delays. For effective intervention, healthcare professionals should have a comprehensive understanding of the clinical manifestations of IVA and be proficient in interpreting biochemical test results.
异戊酸血症（IVA）是首个被确认为有机酸紊乱的病症。其特征为代谢性酮症酸中毒且伴有不明原因的阴离子间隙。本研究对约旦的异戊酸血症进行了调查，为未来的研究奠定了基础。此外，该研究旨在加深对受影响个体临床特征和预后的理解。
本病例系列研究纳入了2010年至2023年在约旦安曼的拉尼亚王后阿卜杜拉儿童医院（QRHC）代谢科确诊的所有异戊酸血症病例。该研究涵盖了社会人口统计学特征、临床和实验室检查结果、家族病史以及父母近亲结婚情况。
我们的队列由21名个体组成（10名男性和11名女性），他们出现异戊酸血症的平均年龄为3.1岁。分别有23.8%和75%的病例观察到阳性家族史和父母近亲结婚情况。呕吐是最常见的症状（57.1%），脑病发生率为33.3%。实验室检查结果显示酸中毒（81%）、高氨血症（71.4%）和低血糖（14.3%）。
有机酸紊乱的早期治疗预后更佳。因此，我们强烈建议开展新生儿筛查以克服诊断方面的挑战和延误。为了进行有效的干预，医疗保健专业人员应全面了解异戊酸血症的临床表现，并熟练掌握生化检查结果的解读。
