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Methylmalonic acidemia

An inherited autosomal recessive disorder characterized by abnormalities in protein and lipid metabolism. From an early age, patients present with various symptoms that may include VOMITING; DEHYDRATION; HYPOTONIA; DEVELOPMENTAL DELAYS; HEPATOMEGALY; LETHARGY, and CHRONIC KIDNEY DISEASE. Germline mutations in the MUT (OMIM: 609058), MMAA (OMIM: 251100), MMAB (OMIM: 251110) , MMADHC (OMIM: 277410), and MCEE (OMIM: 251120) genes have been identified. Acidemia means presence in the blood, Aciduria means presence in the urine.
Also Known As:
Acidemia, methylmalonic; Isolated Methylmalonic Acidemia; Methylmalonic Aciduria
Networked: 843 relevant articles (13 outcomes, 41 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Propionic Acidemia
2. Homocystinuria
3. Ornithine Carbamoyltransferase Deficiency Disease
4. Inborn Urea Cycle Disorders
5. Maple Syrup Urine Disease

Experts

1. Venditti, Charles P: 33 articles (01/2022 - 09/2006)
2. Rosenblatt, David S: 23 articles (10/2022 - 11/2002)
3. Chandler, Randy J: 18 articles (12/2021 - 09/2006)
4. Watkins, David: 16 articles (10/2022 - 12/2004)
5. Baumgartner, Matthias R: 16 articles (07/2022 - 10/2004)
6. Sloan, Jennifer L: 15 articles (11/2021 - 01/2013)
7. Manoli, Irini: 14 articles (01/2022 - 01/2011)
8. Ye, Jun: 13 articles (11/2021 - 06/2004)
9. Fowler, Brian: 10 articles (01/2017 - 10/2004)
10. Froese, D Sean: 9 articles (07/2022 - 12/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Methylmalonic acidemia:
1. Biomarkers (Surrogate Marker)IBA
2. N-carbamylglutamateIBA
3. Carnitine (L-Carnitine)FDA LinkGeneric
4. Methylmalonyl-CoA MutaseIBA
5. Methylmalonic AcidIBA
6. AmmoniaIBA
7. Ligases (Synthetase)IBA
8. Proteins (Proteins, Gene)FDA Link
9. Messenger RNA (mRNA)IBA
10. Betaine (C.B.B.)FDA Link

Therapies and Procedures

1. Liver Transplantation
2. Therapeutics
3. Transplantation
4. Kidney Transplantation
5. Protein-Restricted Diet (Diet, Protein Restricted)