2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
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...
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| Format: | Article |
| Language: | English |
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BMC
2020-04-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-020-01357-0 |
| _version_ | 1819089371142291456 |
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| author | Sarah C. Grünert Jörn Oliver Sass |
| author_facet | Sarah C. Grünert Jörn Oliver Sass |
| author_sort | Sarah C. Grünert |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T22:06:52Z |
| format | Article |
| id | doaj.art-45a376411334427a86db5c25e6004121 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-21T22:06:52Z |
| publishDate | 2020-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-45a376411334427a86db5c25e60041212022-12-21T18:48:41ZengBMCOrphanet Journal of Rare Diseases1750-11722020-04-011511710.1186/s13023-020-01357-02-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathwaysSarah C. Grünert0Jörn Oliver Sass1Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center – University of Freiburg, Faculty of MedicineResearch Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied SciencesAbstract 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.http://link.springer.com/article/10.1186/s13023-020-01357-0KetolysisBeta-ketothiolaseOrganic aciduriaIsoleucineKetone bodyMetabolic acidosis |
| spellingShingle | Sarah C. Grünert Jörn Oliver Sass 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways Orphanet Journal of Rare Diseases Ketolysis Beta-ketothiolase Organic aciduria Isoleucine Ketone body Metabolic acidosis |
| title | 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways |
| title_full | 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways |
| title_fullStr | 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways |
| title_full_unstemmed | 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways |
| title_short | 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways |
| title_sort | 2 methylacetoacetyl coenzyme a thiolase beta ketothiolase deficiency one disease two pathways |
| topic | Ketolysis Beta-ketothiolase Organic aciduria Isoleucine Ketone body Metabolic acidosis |
| url | http://link.springer.com/article/10.1186/s13023-020-01357-0 |
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