BACKGROUND 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL. METHOD We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided. RESULTS More than 95% of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4% already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6% of patients showing normal development. CONCLUSION This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

中文翻译：

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3-羟基-3-甲基戊二酰辅酶 A 裂解酶缺乏症：一种疾病 - 许多面孔。

背景 3-羟基-3-甲基戊二酰辅酶 A 裂解酶缺乏症 (HMGCLD) 是由于 HMGCL 中的突变导致的生酮和亮氨酸降解的常染色体隐性遗传病。方法 我们进行了系统的文献检索，以确定所有已发表的病例。该分析包括 211 名可获得相关临床数据的患者。突出和讨论了临床过程、生化结果和突变数据。提供了所有已发布的 HMGCL 变体的概述。结果 超过 95% 的患者出现急性代谢失代偿。大多数患者在出生后的第一年内就出现了，42.4% 的患者已经是新生儿。极少数人保持无症状。神经系统长期预后良好，62.6% 的患者发育正常。