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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-02-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-020-1319-7 |