(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
- 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic
acidemia (MMA) - NIH scientists develop breath test for methylmalonic acidemia
- Infograph on Cobalamin Disorders
- Infograph on Cobalamin Disorders in Spanish
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC,
- cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
- Cobalamin defects and severe MTHFR deficiency
- Where Can I Find Hydroxycobalamin? (Pharamacy listings)
- Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) at NIH
- "Living with Cobalamin CoFactor Metabolism Defect" produced by Recordati Rare Disease
- New Family Diagnosis Guide for Cobalamin Disorders
- Parent Fact Sheet on MMA, Type 1 by STAR-G/HRSA
- Parent Fact Sheet on MMA with Homocytinuria by STAR-G/HRSA
- Medical Students Research Project on Newborn Screening & MMA in Georgia(PDF)
- Parent Guide to MMA (Methylmalonic Acidemia)
- MMA Teacher's Guide
MMA Research and Study Information
MMA Medical Journal Articles
- GeneReviews - Isolated Methylmalonic Acidemia
- An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 (MMA Cbl X)
- 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
- 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
- Meet Max - Cbl X
- Johnny Tate's Website MMA Mut 0 Family Website
- Michael Clapcich Fund for Retinal Research MMA Cbl C Family Website
- Patricia Stallings Story - Mother Falsely Accused of Killing her Child
Our MMA Member Stories
