@article{GruenertSass2020,
  author    = {Sarah C. Gr{\"u}nert and J{\"o}rn Oliver Sass},
  title     = {2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways},
  series   = {Orphanet Journal of Rare Diseases},
  volume    = {15},
  number    = {106},
  publisher = {BioMed Central},
  address   = {London},
  issn      = {1750-1172},
  doi       = {10.1186/s13023-020-01357-0},
  url       = {https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-48946},
  year      = {2020},
  abstract  = {Background: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ “beta-ketothiolase”) is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1. Methods: We performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed. Results: For 89.6\% of patients at least one acute metabolic decompensation was reported. Age at first symptoms ranged from 2 days to 8 years (median 12 months). More than 82\% of patients presented in the first 2 years of life, while manifestation in the neonatal period was the exception (3.4\%). 77.0\% (157 of 204 patients) of patients showed normal psychomotor development without neurologic abnormalities. Conclusion: This comprehensive data analysis provides a systematic overview on all cases with MATD identified in the literature. It demonstrates that MATD is a rather benign disorder with often favourable outcome, when compared with many other organic acidurias.},
  language  = {en}
}