Article

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

2020-01-14

Abstract excerpt

<title>Abstract</title> <p>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. 211 patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings...

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Literature Corpus work: 28b43557-98cb-5b6a-9181-7fdbd5eaed73
DOI: 10.21203/rs.2.17759/v2

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