How is methylmalonic acidemia diagnosed?
Tests that may be done to diagnose this condition include:
- Ammonia test.
- Blood gases.
- Complete blood count.
- CT scan or MRI of the brain.
- Electrolyte levels.
- Genetic testing.
- Methylmalonic acid blood test.
- Plasma amino acid test.
What is the diagnosis of MMA?
Methylmalonic acidemia (MMA) is an inherited condition caused by a faulty gene. Children with MMA lack a protein that the body needs to break down fats and cholesterol inside cells. As a result, these substances build up in cells, causing damage to the brain, liver, kidneys, and other organs that gets worse over time.
What enzyme is deficient in MMA?
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM, EC 5.4.
What does a methylmalonic acid test show?
What is it used for? An MMA test is most often used to diagnose a vitamin B12 deficiency. This test is also used to diagnose methylmalonic acidemia, a rare genetic disorder. Symptoms of this disorder can range from mild to severe and may include vomiting, dehydration, developmental delays, and intellectual disability.
When is MMA diagnosed?
Methylmalonic acidemia can be diagnosed through newborn screening . Almost every state in the United States screens for this disorder. Additional testing required for diagnosis may include: Biochemical testing for abnormal levels of specific chemicals.
What causes methylmalonic acidemia with homocystinuria?
Homocystinurias occur when urine releases part of a protein called homocysteine. Methylmalonic acidemia with homocystinuria is a combination of both of these conditions. Methylmalonic acidemias develop when enzymes that use vitamin B-12 to help digest certain proteins, fats, and cholesterol do not work properly.
Is there a blood test for methylmalonic acidemia?
Acidemia and increased homocysteine can lead to the signs and symptoms of the condition. Newborn screening for methylmalonic acidemia with homocystinuria is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
Can a nonworking copy of the MMACHC gene cause homocystinuria?
If two parents are carriers of a nonworking copy of the MMACHC, MMADHC, LMBRD1, or ABCD4 gene, they have a 1 in 4 chance of having a child with methylmalonic acidemia with homocystinuria. Carriers for methylmalonic acidemia with homocystinuria often do not know they are carriers before having a child with the condition.
Is there a cure for homocystinuria type CBLC?
Mutations in these genes account for the different types of the disorder, cblC , cblD, cblF, cblJ, and cblX, respectively. [1] Although there is no cure for this conditions, treatment may include int ramuscular injections of hydroxycobalamin, oral betaine, and folic acid.