Beta-Ketothiolase Deficiency as A Treatable Neurometabolic Disorder: A Case Report Due to A Novel Compound Heterozygote Mutations in ACAT1 Gene

Parastoo Rostami, Reyhaneh Mohsenipour, Reyhaneh Kameli, Mahmoud Reza Ashrafi, Ali Reza Tavasoli and Masoud Garshasbi
Additional contact information
Reyhaneh Mohsenipour: Growth and Development Research Center, Division of Endocrinology and Metabolism, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Ali Reza Tavasoli: Myelin Disorders Clinic, Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
Masoud Garshasbi: Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

Biomedical Journal of Scientific & Technical Research, 2019, vol. 15, issue 3, 1-4

Abstract: Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency (OMIM#203750, *607809) is a rare inherited disorder of isoleucine amino acid catabolism and ketone body metabolism...

Keywords: Biomedical Sciences; Biomedical Research; Technical Research (search for similar items in EconPapers)
Date: 2019
References: View complete reference list from CitEc
Citations:

Downloads: (external link)
https://biomedres.us/pdfs/BJSTR.MS.ID.002697.pdf (application/pdf)
https://biomedres.us/fulltexts/BJSTR.MS.ID.002697.php (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:15:y:2019:i:3:p:1-4

DOI: 10.26717/BJSTR.2019.15.002697

Access Statistics for this article

Biomedical Journal of Scientific & Technical Research is currently edited by Robert Thomas

More articles in Biomedical Journal of Scientific & Technical Research from Biomedical Research Network+, LLC
Bibliographic data for series maintained by Angela Roy ().