Beta-Ketothiolase Deficiency as A Treatable Neurometabolic Disorder: A Case Report Due to A Novel Compound Heterozygote Mutations in ACAT1 Gene
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2019, Vol 15, Issue 3
Abstract
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency (OMIM#203750, *607809) is a rare inherited disorder of isoleucine amino acid catabolism and ketone body metabolism. Clinical manifestations of this disorder are nonspecific and similar to the other organic acidurias. 2-methylacetoacetyl CoA thiolase encodes by ACAT1 gene and acts at the end stage of isoleucine amino acid catabolism pathway. Herein we report a 7yr-old boy with beta-ketothiolase deficiency as a cause of a novel compound heterozygote mutations [c.293G>A; (p. Gly98Asp) and c. (120+1_121-1) _ (334+1_335-1) del] in ACAT1 gene. Early diagnosis and treatment of this treatable neurometabolic disorder can prevent from neurologic sequels during ketoacidosis episodes. 2-methylacetoacetyl CoA thiolase enzyme acts at the end stage of isoleucine amino acid catabolism pathway and is involved in the ketone body metabolism [1] (Figure 1). 2-methylacetoacetyl CoA thiolase deficiency (which is also known as Beta-ketothiolase deficiency, T2 deficiency, 3-oxothiolase deficiency, alpha-methyl acetoacetic aciduria, 2-methyl-3-hydroxybutyric acidemia, and mitochondrial acetoacetyl-CoA thiolase deficiency) is an autosomal recessive inborn error of metabolism and classified as a ketolysis disorder or organic aciduria disorder.
Authors and Affiliations
Parastoo Rostami, Reyhaneh Mohsenipour, Ali Reza Tavasoli
Keywords
Related Articles
- EP ID EP591503
- DOI 10.26717/BJSTR.2019.15.002697
- Views 166
- Downloads 0
A Pedagogical Description of Channel Interference in Multiphoton Absorption Processes
In this mini-review, the author discusses a different view of two-photon absorption and in general any multi-photon absorption process in a molecular system in a very didactic way. This novel point of view is termed as "...
A Case report: Importance of Molecular Allergy Diagnostics in Hen’s Egg Allergy
Background: Egg allergy is common in children. Most of the allergy outgrown with age. Oral food challenge (OFC) has been used in allergy diagnostics. Reference values within which 95% of the subjects with positive exposu...
Restricted Boltzmann Machine and its Potential to Better Predict Cancer Survival
Traditional methods to predict cancer survival include Competing-Risk Regression and Cox Proportional Hazards Regression; both require the hazard of input variables to be proportionate, limiting the use of non-proportion...
Play Therapy on Separation Anxiety Children-A Case Report
The symptoms of regarding separation anxiety among children might last to adulthood. Those Children with separation anxiety have a tendency to come through relationship difficulty. In addition, they are inclined to have...
Novel Strategies to Increase Sodium Removal and to Reduce Glucose Exposures in Peritoneal Dialysis
The success of Peritoneal Dialysis (PD) as renal replacement treatment is mainly due to the achievement of dialysis adequacy with a good adaptability to the patients’ needs. Adequate sodium and fluid balance are basic re...