Succinate-Coa Ligase Deficiency

Also Known As:

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria; Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria; Succinate-Coenzyme A Ligase Deficiency

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - Succinate-Coa Ligase Deficiency: 6

Related Diseases

1.	Methylmalonic acidemia
2.	Nonketotic Hyperglycinemia
3.	Alkaptonuria
4.	Aromatic amino acid decarboxylase deficiency

Experts

1.	Batbayli, Mustafa: 2 articles (03/2016 - 02/2010)
2.	Holme, Elisabeth: 2 articles (03/2016 - 02/2010)
3.	Ostergaard, Elsebet: 2 articles (03/2016 - 02/2010)
4.	Anselm, Irina: 1 article (03/2019)
5.	Arn, Pamela H: 1 article (03/2019)
6.	Berry, Gerard T: 1 article (03/2019)
7.	Demirbas, Didem: 1 article (03/2019)
8.	Harris, David J: 1 article (03/2019)
9.	Huang, Xiaoping: 1 article (03/2019)
10.	Lerner-Ellis, Jordan P: 1 article (03/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Succinate-Coa Ligase Deficiency:

1.	Succinate-CoA Ligases (Succinyl Coenzyme A Synthetases)IBA 03/01/2019 - "Succinyl-CoA synthetase or succinate-CoA ligase deficiency can result from biallelic mutations in SUCLG1 gene that encodes for the alpha subunit of the succinyl-CoA synthetase. " 02/01/2010 - "Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. "
2.	Mitochondrial DNA (mtDNA)IBA 01/01/2016 - "Succinate-CoA ligase deficiency causes encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. " 10/01/2010 - "Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. "
3.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 04/01/2017 - "Other inherited metabolic disorders included: 9 (10.2%) cases of intracellular cobalamin defects, 2 (2.3%) cases each of alkaptonuria, Canavan's disease, SUCL (succinate CoA ligase) deficiency, and 1 (1.1%) case each of DPD (dihydropyrimidine) deficiency, GA-2, NKH (non-ketotic hyperglycinemia), AADC (aromatic amino acid decarboxylase) deficiency. "
4.	EnzymesIBA 03/01/2016 - "Analysis of respiratory chain enzyme activities in muscle generally showed a combined deficiency of complexes I and IV, but normal histological and biochemical findings in muscle did not preclude a diagnosis of succinate-CoA ligase deficiency. "