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Article

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

Orphanet journal of rare diseases - 14 Feb 2020

Grünert Sarah C, Sass Jörn Oliver

Abstract excerpt

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...

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Share to Acetyl-CoA C-Acetyltransferase
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32059735
DOI: 10.1186/s13023-020-1319-7
PMCID: PMC7023732

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