Methylmalonic Acidemia
Common Symptoms
Poor Feeding
Loss of Appetite
Vomiting
Hypotonia or Weak Muscle Tone
Lethargy or Lack of Energy
Feelings of confusion
Unable to think Clearly
Severe Symptoms
Coma
Intellectual and motor disability
Poor growth
Kidney disease
kidney failure
Seizures
Diagnosis
Exams and tests
Cause
Mutations in MMUT, MMAA, MMAB, MMADHC, and MCEE genes
MMUT gene provides the instructions that makes an enzyme which is very important in the breakdown of many protein building blocks
MMAA gene provides the instructions for making a protein the is involved in making a compound. The compound is vital for the regular function of another enzyme that breaks down specific proteins, fats, and cholesterol
MMAB gene also provides instructions for making an enzyme that is involved in an important compound
MMADHC gene provides the instructions for making a protein that converts vitamin B12 into two possible molecules. These molecules are nesscary for the regular function of an enzyme
MCEE gene provides instructions for an enzyme that converts an important molecule into another
Helpful Links
Protein Content of Foods
Traveling on a Low Protein Diet
Traveling Tips
Metabolic Diet App
Current Research
Statistics
1 in 20 000 babies are born with Methylmalonic Acidemia each year in Canada
When two carriers of an autosomal recessive condition have children, each child has:
25% or a 1 in 4 chance to have the disorder
50% or a 1 in 2 chance to be an unaffected carrier like each parentopic
25% (1 in 4) chance to be unaffected and not be a carrier.
60 percent of methylmalonic acidemia cases are caused by mutations in the MMUT gene
History
in 1967 MMA was first characterized by Oberholzer et al
Ther4e is not very much historical information concerning this genetic disorder.
Ammonia Test
Blood Gases
Complete Blood Count
CT Scan
Electrolyte Levels
MRI of the Brain
Methylmalonic acid blood test
Plasma amino acid test
Genetic Testing
Methylmalonic Acidemia (MMA)
At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care
Hear from Dr. Tal Zaks, Moderna’s Chief Medical Officer and Lin Guey, Senior Director, Rare Diseases explain what mRNA-3704 is and how it may help patients with MMA.
What is a mutation
A mutation is a alteration or change in the structure of DNA. This results in a variant form that can be transmitted to other generations. Mutations can affect a single building block of DNA to a large section of genes or chromosomes
Diagnostic Criteria
Clinical Trials
Newborn Screening
More information on genetic testing
Genetic testing is a voluntary medical test that can be done to identify abnormalities in chromosomes, genes, or proteins
Diet
A diet is very important for those with Methylmalonic Acidemia. A strict low protein diet is vital for their all being
Information on Nutrition
Canada's Food guide
Medication
Treatment and Prevention
There is not a specific treatment or cure for Methylmalonic Acidemia. The treatment for this disorder simply focuses on minimizing the symptoms.
Vitamin B12
A pill that is avalive at most drug stores. This medication is only useful for those who still have some enzymes that function properly.
Carnitine
This medication is available in liquid or pill form.Those with MMA often lack carnitine. Carntinine is important to energy production
Flagyl/Metronidazole
This medication is only available by prescription. It is in pill form and decreases the amount of acid produced in the intestines. This will overall lower the level of acid in the body.