Case Reports
doi: 10.1007/s10545-005-7497-6.
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency
Affiliations
- PMID: 15877211
- DOI: 10.1007/s10545-005-7497-6
Item in Clipboard
Case Reports
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency
J Inherit Metab Dis.
2005.
Abstract
We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.
Similar articles
-
[Mitochondrial acetoacetyl-CoA thiolase deficiency].Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):310-3. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590054 Review. Japanese. No abstract available.
-
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.Hum Mutat. 1998;12(4):245-54. doi: 10.1002/(SICI)1098-1004(1998)12:4<245::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9744475
-
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.Hum Mutat. 1997;9(3):277-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9090533 No abstract available.
-
Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.Clin Genet. 1992 Apr;41(4):202-5. Clin Genet. 1992. PMID: 1349518
-
[Molecular studies on inborn errors of ketone body metabolism].Seikagaku. 2003 Apr;75(4):293-7. Seikagaku. 2003. PMID: 12762227 Review. Japanese. No abstract available.
Cited by
-
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.Front Genet. 2024 May 9;15:1387423. doi: 10.3389/fgene.2024.1387423. eCollection 2024. Front Genet. 2024. PMID: 38784038 Free PMC article.
-
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.J Hum Genet. 2019 Feb;64(2):99-111. doi: 10.1038/s10038-018-0524-x. Epub 2018 Nov 5. J Hum Genet. 2019. PMID: 30393371 Review.
-
Ketone body metabolism and its defects.J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8. J Inherit Metab Dis. 2014. PMID: 24706027 Review.
-
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.Hum Mutat. 2019 Oct;40(10):1641-1663. doi: 10.1002/humu.23831. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31268215 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
