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

Author

Listed:
  • Parastoo Rostami
  • Reyhaneh Mohsenipour

    (Growth and Development Research Center, Division of Endocrinology and Metabolism, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran)

  • Reyhaneh Kameli
  • Mahmoud Reza Ashrafi
  • 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)

Abstract

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

Suggested Citation

  • Parastoo Rostami & Reyhaneh Mohsenipour & Reyhaneh Kameli & Mahmoud Reza Ashrafi & Ali Reza Tavasoli & Masoud Garshasbi, 2019. "Beta-Ketothiolase Deficiency as A Treatable Neurometabolic Disorder: A Case Report Due to A Novel Compound Heterozygote Mutations in ACAT1 Gene," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 15(3), pages 1-4, March.
    • Handle: RePEc:abf:journl:v:15:y:2019:i:3:p:1-4
    DOI: 10.26717/BJSTR.2019.15.002697
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    Keywords

    Biomedical Sciences; Biomedical Research; Technical Research;
    All these keywords.

    JEL classification:

    • R00 - Urban, Rural, Regional, Real Estate, and Transportation Economics - - General - - - General
    • Z0 - Other Special Topics - - General

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