3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Abstract: 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
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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Orphanet journal of rare diseases. - 15, 1 (2020) , 48, ISSN: 1750-1172
- Event
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Veröffentlichung
- (where)
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Freiburg
- (who)
-
Universität
- (when)
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2020
- Creator
- DOI
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10.1186/s13023-020-1319-7
- URN
-
urn:nbn:de:bsz:25-freidok-1551131
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
25.03.2025, 1:43 PM CET
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Grünert, Sarah
- Sass, Jörn Oliver
- Universität
Time of origin
- 2020
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