(MMA) MMA Methylmalonic Acidemia
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia vary from mild to life-threatening. This condition, which usually appears in early infancy, is characterized by vomiting, dehydration, weak muscle tone (hypotonia), and excessive tiredness (lethargy). Without treatment, the disorder can lead to coma and death in some cases. more >>
Informative Websites on MMA
- Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) at NIH
- Parent Fact Sheet on MMA, Type 1 by STAR-G/HRSA
- Parent Fact Sheet on MMA with Homocytinuria by STAR-G/HRSA
- GeneReview on MMA (funded by the NIH)
- Sources of Hydroxycobalamin (Pharamacy listings)
- Medical Students Research Project on Newborn Screening & MMA in Georgia(PDF)
MMA Research and Study Information
- MMA Research Website
- Clinical Study at NIH on MMA
- MUHC and McGill scientists identify gene for debilitating
vitamin B12 disease - November, 2005 (PDF) - Emory Genetics Laboratory - Emory University (MMA Testing)
- National Laboratory Network for Rare Disease Genetic Testing
MMA Medical Journal Articles
- Long-term Rescue of a Lethal Murine Model of Methylmalonic Acidemia Using Adeno associated Viral Gene Therapy (Note from Marty Moran)
- Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle (BMC Medical Genetics)
- Dr. Venditti's Worm Model on MMA (Pub Med)
- E-Medicine - Methylmalonic Acidemia
- MMA Cbl C - Pub Med Description
- E-Medicine - Metabolic Disease & Stroke: Methylmalonic Acidemia
- Use of human somatotrophin in the treatment of a patient with methylmalonic aciduria
- Identification of Genes Causing Defects in Vitamin B12 Metabolism Press Release, December 10, 2002 (PDF)
Family Websites
- Johnny Tate's Website MMA Mut 0 Family Website
- Michael Clapcich Fund for Retinal Research MMA Cbl C Family Website
- ORGANIC ACIDAEMIAS UK Family with MMA Child Website in the England
- Patricia Stallings Story - Mother Falsely Accused of Killing her Child
Meet Our Children With Methylmalonic Acidemia |
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