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. 211 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.
| Document Type: | Preprint |
|---|---|
| Language: | English |
| Author: | Sarah Catharina Grünert, Jörn Oliver Sass |
| DOI: | https://doi.org/10.21203/rs.2.17759/v2 |
| Publisher: | Research Square |
| Date of first publication: | 2019/11/25 |
| Publication status: | published version of this article at Orphanet Journal of Rare Disease |
| Keyword: | HMGCL; Ketogenesis; hyperammonemia; hypoglycemia; inborn error of metabolism; ketone body; leucine; metabolic acidosis; metabolic decompensation; organic aciduria |
| Departments, institutes and facilities: | Fachbereich Angewandte Naturwissenschaften |
| Dewey Decimal Classification (DDC): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
| Entry in this database: | 2020/01/08 |
| Licence (German): |  Creative Commons - CC BY - Namensnennung 4.0 International |
