TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - nicht begutachtet (unreviewed)
A1  - Grünert, Sarah Catharina
A1  - Sass, Jörn Oliver
T1  - 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces
N2  - 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.
KW  - Ketogenesis
KW  - organic aciduria
KW  - leucine
KW  - ketone body
KW  - metabolic acidosis
KW  - hyperammonemia
KW  - hypoglycemia
KW  - metabolic decompensation
KW  - HMGCL
KW  - inborn error of metabolism
U6  - https://doi.org/10.21203/rs.2.17759/v2
DO  - https://doi.org/10.21203/rs.2.17759/v2
PB  - Research Square
ER  -