3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

mutation in HMGCS2

Also Known As:

HMGCS2 Deficiency; Mitochondrial HMG-CoA Synthase Deficiency

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Acyltransferases: 374
      - Hydroxymethylglutaryl-CoA Synthase: 40
        3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency: 2
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency: 2

Experts

1.	Asif, Shaza: 1 article (01/2022)
2.	Cheung, Angela C: 1 article (01/2022)
3.	Denoncourt, Alix: 1 article (01/2022)
4.	Downey, Michael: 1 article (01/2022)
5.	Fatica, Thet: 1 article (01/2022)
6.	Kim, Kyoung-Han: 1 article (01/2022)
7.	Kim, Ri Youn: 1 article (01/2022)
8.	Mulvihill, Erin E: 1 article (01/2022)
9.	Oh, Yena: 1 article (01/2022)
10.	Sim, Jordan: 1 article (01/2022)

Related Diseases

1.	Non-alcoholic Fatty Liver Disease 01/01/2022 - "Aberrant ketogenesis is correlated with the degree of steatosis in non-alcoholic fatty liver disease (NAFLD) patients, and an inborn error of ketogenesis (mitochondrial HMG-CoA synthase deficiency) is commonly associated with the development of the fatty liver. "
2.	Ketosis 06/01/2019 - "To identify the genetic causes and evaluate the phenotype of mitochondrial HMG-CoA synthase deficiency in a pediatric patient with uncommon features that included ketosis and elevated lactate and ammonia. "
3.	Hypoglycemia (Reactive Hypoglycemia) 06/01/2019 - "Our results extend the genotypic and phenotypic spectrum of HMGCS2 mutation in mitochondrial HMG-CoA synthase deficiency patients and serve as a reminder for physicians to consider mitochondrial HMG-CoA synthase deficiency in newborns and children with coma and hypoketotic hypoglycemia after fasting."
4.	Fatty Liver 01/01/2022 - "Aberrant ketogenesis is correlated with the degree of steatosis in non-alcoholic fatty liver disease (NAFLD) patients, and an inborn error of ketogenesis (mitochondrial HMG-CoA synthase deficiency) is commonly associated with the development of the fatty liver. "
5.	Coma (Comas) 06/01/2019 - "Our results extend the genotypic and phenotypic spectrum of HMGCS2 mutation in mitochondrial HMG-CoA synthase deficiency patients and serve as a reminder for physicians to consider mitochondrial HMG-CoA synthase deficiency in newborns and children with coma and hypoketotic hypoglycemia after fasting."

Related Drugs and Biologics

1.	Lactic Acid (Lactate)
2.	Ammonia