Abstract：
3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over their lifespan, incorporating acute and long-term dietary management, was performed. Data from 10 patients contributed to this study. The index case of this disorder was lost to follow-up, but there is 100% survival in the remainder of the cases despite several having experienced life-threatening episodes. In the acute setting, five of nine patients have used 900 mg/kg/day of sodium D,L 3-hydroxybutyrate in combination with intravenous dextrose-containing fluids (delivering glucose above estimated basal utilization requirements). All patients have been on long-term protein restriction, and those diagnosed more recently have had additional fat restriction. Most patients take L-carnitine. Three children and none of the adults take nocturnal uncooked cornstarch. Of the cohort, there were two patients that presented atypically-one with fulminant liver failure and the other with isolated developmental delay. Dietary management in patients with HMGCL deficiency is well tolerated, and rapid institution of acute supportive metabolic treatment is imperative to optimizing survival and improve outcomes in this disorder.
摘要：
3-羟基-3-甲基戊二酰辅酶A裂解酶（HMGCL）缺乏症可能是一种非常严重的疾病，通常表现为急性代谢代偿失调，伴有低酮症性低血糖的特征。高氨血症,和代谢性酸中毒.澳大利亚患者寿命的回顾性图表和文献综述，结合急性和长期饮食管理，已执行。来自10名患者的数据促成了这项研究。这种疾病的索引病例失去了随访，但尽管有几例经历过危及生命的发作，但其余病例的生存率为100%。在急性环境中，9名患者中有5名使用了900毫克/千克/天的钠D，L3-羟基丁酸酯与静脉内含葡萄糖的液体组合(递送高于估计的基础利用要求的葡萄糖)。所有患者都接受了长期的蛋白限制,和那些诊断最近有额外的脂肪限制。大多数患者服用左旋肉碱。三个孩子和一个成年人都没有服用夜间未煮熟的玉米淀粉。在队列中，有2例患者表现为非典型-1例发生暴发性肝功能衰竭,另1例发生孤立性发育迟缓.HMGCL缺乏症患者的饮食管理耐受性良好，和急性支持性代谢治疗的迅速机构是当务之急，以优化生存和改善该疾病的结果。
