Methylmalonyl-CoA Epimerase Deficiency

Also Known As:

Methylmalonyl-CoA Racemase Deficiency

Networked: 3 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Methylmalonyl-CoA Epimerase Deficiency: 3
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Methylmalonyl-CoA Epimerase Deficiency: 3
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Isomerases: 463
    - Racemases and Epimerases: 412
      - Methylmalonyl-CoA Epimerase Deficiency: 3

Experts

1.	Bahi-Buisson, Nadia: 1 article (01/2015)
2.	Benoit, Jean François: 1 article (01/2015)
3.	Cadoudal, Marylène: 1 article (01/2015)
4.	Christa, Laurence: 1 article (01/2015)
5.	Clot, Fabienne: 1 article (01/2015)
6.	Damaj, Léna: 1 article (01/2015)
7.	Dubourg, Christele: 1 article (01/2015)
8.	Maubert, Marie-Anne: 1 article (01/2015)
9.	Mazzuca, Michel: 1 article (01/2015)
10.	Odent, Sylvie: 1 article (01/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Methylmalonyl-CoA Epimerase Deficiency:

1.	Levodopa (L Dopa)FDA LinkGeneric 01/01/2015 - "Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials."
2.	5-Hydroxytryptophan (5 Hydroxytryptophan)IBA 01/01/2015 - "Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials."
3.	Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA 01/01/2015 - "Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials."
4.	sepiapterin reductaseIBA 01/01/2015 - "Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials."
5.	Methylmalonic AcidIBA 10/01/2023 - "Methylmalonyl-CoA epimerase deficiency is an ultra-rare autosomal recessive disorder where methylmalonic acid, methylcitrate, 3-hydroxypropionate, and propionylcarnitine are accumulated. "
6.	EnzymesIBA 07/01/2006 - "This is the first report of methylmalonyl-CoA epimerase deficiency, thereby unequivocally demonstrating the biochemical role of this enzyme in human metabolism."
7.	hydracrylic acidIBA 10/01/2023 - "Methylmalonyl-CoA epimerase deficiency is an ultra-rare autosomal recessive disorder where methylmalonic acid, methylcitrate, 3-hydroxypropionate, and propionylcarnitine are accumulated. "
8.	propionylcarnitineIBA 10/01/2023 - "Methylmalonyl-CoA epimerase deficiency is an ultra-rare autosomal recessive disorder where methylmalonic acid, methylcitrate, 3-hydroxypropionate, and propionylcarnitine are accumulated. "