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

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL. We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom relevant clinical data...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2020-02, Vol.15 (1), p.48-48, Article 48
Main Authors: Grünert, Sarah C, Sass, Jörn Oliver
Format: Article
Language:English
Subjects:
Acetyl-CoA C-Acetyltransferase - deficiency
Acidosis
Age
Amino Acid Metabolism, Inborn Errors - genetics
Amino acids
Biochemistry
Coenzyme A
Diet
Diseases
Enzymes
Genetic aspects
Hereditary diseases
Humans
Hyperammonemia
Hypoglycemia
Information management
Ketogenesis
Ketone body
Leucine
Medical research
Metabolic acidosis
Metabolism
Metabolites
Mutation
Mutation - genetics
Organic aciduria
Oxo-Acid-Lyases - genetics
Patients
Physiological aspects
Proteins
Rare diseases
Thiols
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Summary:3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL. 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. 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. This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-020-1319-7