How is methylmalonic acidemia diagnosis?
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 is MMA disease?
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, which usually appear in early infancy, vary from mild to life-threatening.
What causes MMA disease?
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.
How is MMA treated?
Methylmalonic acidemia is treated primarily with a low-protein, high-calorie diet, certain medications, antibiotics and in some cases, organ transplantation. Medication treatment consists cobalamin (vitamin B12) given as an injection, carnitine, and antibiotics.
Is methylmalonic acidemia hereditary?
How do people inherit methylmalonic acidemia? Methylmalonic acidemia is inherited in an autosomal recessive manner. In an individual with methylmalonic acidemia, both copies of the gene ( MUT, MMAA, MMAB, MMACHC MMADHC and LMBRD1) have mutations or alterations.
Is high homocysteine hereditary?
Genetic mutations in MTHFR are the most commonly known inherited risk factor for elevated homocysteine levels. We all have 2 MTHFR genes, one inherited from each parent. Some people have a genetic mutation in one or both of their MTHFR genes.
What causes methylmalonic acidemia (MMA)?
Methylmalonic acidemia can be caused by mutations (or mistakes) in several genes. Individuals with methylmalonic acidemia can be divided into two groups: 1) patients with isolated MMA, where only methylmalonic acid is elevated 2) patients with combined defects who also have increased levels of homocysteine.
What causes cobalamin B (CBLB) methylmalonic acidemia?
The cobalamin B (cblB) type of methylmalonic acidemia is caused by mutations in the MMAB gene. Both of these conditions are similar to patients who have mut0 methylmalonic acidemia. However, most patients with cblA and cblB show clinical and metabolic improvement with supplementation with a form of vitamin B12 (hydroxycobalamin).
How are patients with methylmalonic acidemia (Mut) classified?
Patients with methylmalonic acidemia that have mutations in the MUT gene are generally placed into two groups. When mutations in the MUT gene result in no enzyme activity patients are classified as “mut0”.
Can vitamin B12 deficiency cause methylmalonic acid?
The result is a buildup of methylmalonic acid in the body. Vitamin B12 deficiency states that are not due to genetic causes, such as vitamin B12 deficiency, can also cause methylmalonic acid to build up in the body. The effects of methylmalonic acidemia vary from mild to life-threatening.