202 top medical experts on Methylmalonic acidemia with homocystinuria across 10 countries and 9 U.S. states, including 51 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Methylmalonic acidemia with homocystinuria: A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- HCU Network America
623 Creek Lane
Flourtown, PA 19031
Telephone: 630-360-2087
E-mail: info@hcunetworkamerica.org
Website: http://hcunetworkamerica.org/
- Organic Acidemia Association
9040 Duluth Street
Golden Valley, MN 55427
Telephone: 763-559-1797
Fax: 866-539-4060
E-mail: mkstagni@gmail.com
Website: http://www.oaanews.org/
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- Synonyms: Cobalamin-C methylmalonic acidemia and homocystinuria, CblC Type Methylmalonic Acidemia and Homocystinuria, CblC Type Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive Methylmalonic Aciduria and Homocystinuria, Methylmalonic acidemia and homocystinemia, Methylmalonic acidemia and homocystinuria cblC type
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