Methylmalonic Acidemia

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af Leia Brown

Crime Reporting and Recording

af Phil Dollimore

Aniridia

af Nikki Brodbeck

Diabetic Retinopathy (DR)

af Paola Burburan

Support

An online tool that families, who are interested in sharing their health and genetic information, can use to connect with other families, clinicians, and researchers.

A volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders.

A nonprofit organization that provides information, support, events, connections with other parents, a discussion board, and nutrition and recipe ideas.

What is Methylmalonic Acidemia?

The acid will begin to build up in the blood, fluid around the brain, spinal cord, and urine.

Food will only be broken down into the acid stage.

Methylmalonic acidemia is an inherited genetic disorder in which the body can't properly process certain types of proteins and fats

Other Names: MMA; Acidemia, methylmalonic

Surgery

A more extreme option for treatment is a kidney or liver transplant

Medication

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.

Carnitine

This medication is available in liquid or pill form.Those with MMA often lack carnitine. Carntinine is important to energy production

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.

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.

Diet

Information on Nutrition

Canada's Food guide

A diet is very important for those with Methylmalonic Acidemia. A strict low protein diet is vital for their all being

More information on genetic testing

Genetic testing is a voluntary medical test that can be done to identify abnormalities in chromosomes, genes, or proteins

Newborn Screening

Clinical Trials

Diagnostic Criteria

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

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.

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

Genetic Testing

Plasma amino acid test

Methylmalonic acid blood test

MRI of the Brain

Electrolyte Levels

CT Scan

Complete Blood Count

Blood Gases

Ammonia Test

History

Ther4e is not very much historical information concerning this genetic disorder.

in 1967 MMA was first characterized by Oberholzer et al

Statistics

60 percent of methylmalonic acidemia cases are caused by mutations in the MMUT gene

When two carriers of an autosomal recessive condition have children, each child has:

25% (1 in 4) chance to be unaffected and not be a carrier.

50% or a 1 in 2 chance to be an unaffected carrier like each parentopic

25% or a 1 in 4 chance to have the disorder

1 in 20 000 babies are born with Methylmalonic Acidemia each year in Canada

Current Research

Helpful Links

Metabolic Diet App

Traveling Tips

Traveling on a Low Protein Diet

Protein Content of Foods

Cause

Mutations in MMUT, MMAA, MMAB, MMADHC, and MCEE genes

MCEE gene provides instructions for an enzyme that converts an important molecule into another

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

MMAB gene also provides instructions for making an enzyme that is involved in an important compound

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

MMUT gene provides the instructions that makes an enzyme which is very important in the breakdown of many protein building blocks

Methylmalonic Acidemia

Methylmalonic Acidemia (MMA) is a rare genetic disorder characterized by the body's inability to properly process certain fats and proteins due to enzyme deficiencies. There is no cure for MMA, so treatments focus on managing symptoms.

Rubella

Crime Reporting and Recording

Aniridia

Diabetic Retinopathy (DR)

Support

An online tool that families, who are interested in sharing their health and genetic information, can use to connect with other families, clinicians, and researchers.

A volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders.

A nonprofit organization that provides information, support, events, connections with other parents, a discussion board, and nutrition and recipe ideas.

What is Methylmalonic Acidemia?

The acid will begin to build up in the blood, fluid around the brain, spinal cord, and urine.

Food will only be broken down into the acid stage.

Methylmalonic acidemia is an inherited genetic disorder in which the body can't properly process certain types of proteins and fats

Other Names: MMA; Acidemia, methylmalonic

Surgery

A more extreme option for treatment is a kidney or liver transplant

Medication

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.

Carnitine

This medication is available in liquid or pill form.Those with MMA often lack carnitine. Carntinine is important to energy production

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.

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.

Diet

Information on Nutrition

Canada's Food guide

A diet is very important for those with Methylmalonic Acidemia. A strict low protein diet is vital for their all being

More information on genetic testing

Genetic testing is a voluntary medical test that can be done to identify abnormalities in chromosomes, genes, or proteins

Newborn Screening

Clinical Trials

Diagnostic Criteria

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

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.

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

Genetic Testing

Plasma amino acid test

Methylmalonic acid blood test

MRI of the Brain

Electrolyte Levels

CT Scan

Complete Blood Count

Blood Gases

Ammonia Test

Methylmalonic Acidemia

History

Ther4e is not very much historical information concerning this genetic disorder.

in 1967 MMA was first characterized by Oberholzer et al

Statistics

60 percent of methylmalonic acidemia cases are caused by mutations in the MMUT gene

When two carriers of an autosomal recessive condition have children, each child has:

25% (1 in 4) chance to be unaffected and not be a carrier.

50% or a 1 in 2 chance to be an unaffected carrier like each parentopic

25% or a 1 in 4 chance to have the disorder

1 in 20 000 babies are born with Methylmalonic Acidemia each year in Canada

Current Research

Helpful Links

Metabolic Diet App

Traveling Tips

Traveling on a Low Protein Diet

Protein Content of Foods

Cause

Mutations in MMUT, MMAA, MMAB, MMADHC, and MCEE genes

MCEE gene provides instructions for an enzyme that converts an important molecule into another

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

MMAB gene also provides instructions for making an enzyme that is involved in an important compound

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

MMUT gene provides the instructions that makes an enzyme which is very important in the breakdown of many protein building blocks

Diagnosis

Exams and tests

Severe Symptoms

Seizures

kidney failure

Kidney disease

Poor growth