Methylmalonic acid test
Definition
Methylmalonic acid is a substance produced when proteins (amino acids) in the body break down. A test can be done to measure the amount of methylmalonic acid in your blood.
Why is the Test Performed?
Methylmalonic acidemia
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What is methylmalonic acidemia?
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.
Methylmalonic acid is a substance produced when proteins (amino acids) in the body break down. A test can be done to measure the amount of methylmalonic acid in your blood.
How the test is performed: ...
Methylmalonic Aciduria
None
The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine).
Methylmalonic aciduria type 2
Arginosuccinate synthetase deficiency
Lead
Propionyl-CoA carboxylase deficiency
Dibasic aminoaciduria type 2
Arginase deficiency
Tyrosinaemia type 2
Thiamine-responsive megaloblastic anemia syndrome ...
Methylmalonic Acid
ABC
Abacavir; Absolute Basophil Count; Absolute Bone Conduction; Acalculous Biliary Colic; Acid Balance Control; Aconite-belladonna-chloroform ...
Methylmalonic aciduria
Homocystinuria
Risk Factors
A risk factor is something that increases your chance of getting a disease or condition. The following factors increase your chance of developing vitamin B12 deficiency.
Methylmalonic acidemia: This disorder is caused by deficiency of methylmalonyl CoA mutase, which converts methylmalonyl CoA (a product of the propionyl CoA carboxylation) into succinyl CoA.
The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine).
Measuring methylmalonic acid and homocysteine, substances in the blood that increase when levels of one or both vitamins are low, improves accuracy.
Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched-chain Organic acidemias (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, ...
The Methylmalonic Acidemias ... breathing problems
Thromboembolism ... Pulmonary embolism
Thrombosis ... Pulmonary embolism
Thyroid cancer ... lung cancer
Tobacco smoke associated asthma ... severe breathing difficulty, asphyxia, asphyxia ...
Methylmalonic acid (MMA) level'a measurement of the amount of methylmalonic acid in the blood; this test determines whether a vitamin B12 deficiency exists.
In this case, the blood's B12 level can be normal.
Methylmalonic acid. The level of methylmalonic acid is high in anaemia due to a lack of vitamin B12 or folic acid. Methylmalonic acid can also be checked with a urine test.
Your homocysteine and methylmalonic acid (MMA) levels. High levels of these substances in your body are a sign of pernicious anemia.
For intrinsic factor antibodies and parietal cell antibodies. These antibodies also are a sign of pernicious anemia.
Blood test to measure methylmalonic acid level - The blood level of methylmalonic acid increases when a person has B12 deficiency.
Levels of methylmalonic acid and homocysteine can confirm B12 deficiency. Disorders of hemoglobin (e.g., thalassemia, sickle cell anemia) can be confirmed with hemoglobin electrophoresis.
Methylmalonic acidemia
Muscular dystrophy
Myasthenia gravis
Myotonic dystrophy (a type of muscular dystrophy)
Phelan-McDermid syndrome (Deletion 22q13 syndrome)
Prader-Willi syndrome
Rickets
Sepsis ...
Nardin RA, Amick AN, Raynor EM. Vitamin B(12) and methylmalonic acid levels in patients presenting with polyneuropathy. Muscle Nerve. 2007;36(4):532-535.
An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group.
It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.
These comprise glutaric aciduria type I, glutaric aciduria Type II and methylmalonic acidaemia. The neurological presentation varies according to age but is characterized by psychomotor retardation, ataxia, seizures and spastic paraparesis.
Homocysteine test and methylmalonic acid (MMA) test. The amount of these substances in the blood rises as the level of vitamin B12 decreases. Your doctor may use these tests to check to see why vitamin B12 levels may be borderline low.
 See also: Deficiency, Symptom, Cancer, Anemia, Methylmalonic acidemia
  
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