Tandon Krutika, Tandon Rahul, Patel Meet, Parikh Charmy, Upadhyay Henil
Pediatrics, Pramukhswami Medical College, Anand, IND.
Cureus. 2021 Apr 10;13(4):e14407. doi: 10.7759/cureus.14407.
Glutaric aciduria type II (GA II) also known as multiple acyl-CoA dehydrogenase deficiency is an inborn metabolic disorder belonging to the family of organic acidurias. It is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. Tandem mass spectrometry (TMS) acts as a screening tool, while the diagnosis of GA-II with ketosis is confirmed by a combination of tests like organic acids, quantitative random urine, and a full urine panel. Early diagnosis, compliance to specialized diet, affordability, and regular follow-ups are required to tackle this potentially life-threatening condition. Herein, we report a case of glutaric aciduria type-II with ketosis in a 4.5 months old male infant who was managed with a low-protein diet, which was free of tryptophan, lysine, and other specific dietary supplements.
II型戊二酸血症（GA II）也称为多种酰基辅酶A脱氢酶缺乏症，是一种属于有机酸尿症家族的先天性代谢紊乱疾病。它是一种干扰身体分解蛋白质和脂肪以产生能量能力的疾病。串联质谱法（TMS）用作筛查工具，而伴有酮症的GA-II的诊断则通过有机酸、定量随机尿样和全尿检测等一系列检测来确诊。应对这种可能危及生命的疾病需要早期诊断、遵循特殊饮食、具备可承受性以及定期随访。在此，我们报告一例4.5个月大男性婴儿患伴有酮症的II型戊二酸血症的病例，该婴儿通过低蛋白饮食进行治疗，该饮食不含色氨酸、赖氨酸和其他特定膳食补充剂。
