(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.

MMA Documentary Series

We are proud to share this documentary series written, narrated, produced and edited by the three extremely talented daughters of Charles Venditti, M.D., Ph.D.

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Informative Websites

Where Can I Find Hydroxycobalamin (Pharmacy listings)
Betaine Anhydrous:
An FDA-approved generic bioequivalent and therapeutically equivalent to Cystadan
Parent Guide to MMA (Methylmalonic Acidemia)
Parent Fact Sheet on MMA, Type 1 by STAR-G/HRSA
Parent Fact Sheet on MMA with Homocytinuria by STAR-G/HRSA
Infograph on Cobalamin Disorders
Infograph on Cobalamin Disorders in Spanish
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
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
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
Medical Students Research Project on Newborn Screening & MMA in Georgia
MMA Teacher’s Guide

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MMA Research & Studies

MMA Research Website
Clinical Study at NIH on MMA
MUHC and McGill scientists identify gene for debilitating vitamin B12 disease – November, 2005
Emory Genetics Laboratory – Emory University (MMA Testing)

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Medical Journal Articles

What causes high ammonia and glycine in MMA?
New Drug Relieves TCA Cycle Block In Patients With PA And MMA
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
Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia
Identification of Genes Causing Defects in Vitamin B12 Metabolism Press Release, December 10, 2002