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

  • 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.

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Document Type:Article
Author:Sarah C. Grünert, Jörn Oliver Sass
Parent Title (English):Orphanet Journal of Rare Diseases
First Page:48
Pubmed Id:
Publisher:BioMed Central
Place of publication:London
Publishing Institution:Hochschule Bonn-Rhein-Sieg
Date of first publication:2020/02/14
Tag:HMGCL; Hyperammonemia; Hypoglycemia; Inborn error of metabolism; Ketogenesis; Ketone body; Leucine; Metabolic acidosis; Metabolic decompensation; Organic aciduria
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
Entry in this database:2020/02/14
Licence (German):License LogoCreative Commons - CC BY - Namensnennung 4.0 International