Yilmaz Ozlem, Kitchen Steve, Pinto Alex, Daly Anne, Gerrard Adam, Hoban Rachel, Santra Saikat, Sreekantam Srividya, Frost Kathryn, Pigott Anna, MacDonald Anita
Hacettepe University, Ankara, Turkey.
Nutr Hosp. 2018 Jan 10;35(1):237-244. doi: 10.20960/nh.1329.
3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. Few cases are reported in the literature, and optimal dietary management and long term outcome are not fully understood.
We report a 2 year old girl with HMG-CoA-lyase deficiency who had limited fasting tolerance on a low protein diet, with several recurrent hospital admissions with severe hypoketotic hypoglycaemia and metabolic acidosis. We also review the dietary management and outcome of other reported cases in the literature.
In order to define optimal dietary treatment, it is important to collect higher numbers of case studies with detailed dietary management, fasting times and outcome.
3-羟基-3-甲基戊二酰辅酶A（HMG-CoA）裂解酶缺乏症是一种常染色体隐性疾病，通常在新生儿期出现呕吐、代谢性酸中毒、低血糖和无酮尿症。文献报道的病例较少，最佳饮食管理和长期预后尚不完全清楚。
我们报告一名2岁患有HMG-CoA裂解酶缺乏症的女孩，她在低蛋白饮食下禁食耐受性有限，多次因严重低酮性低血糖和代谢性酸中毒反复入院。我们还回顾了文献中其他报道病例的饮食管理和预后情况。
为了确定最佳饮食治疗方案，收集更多有详细饮食管理、禁食时间和预后情况的病例研究很重要。
