What does Methylmalonyl CoA Mutase do?
Methylmalonyl CoA mutase is responsible for a particular step in the breakdown of several protein building blocks (amino acids), specifically isoleucine, methionine, threonine, and valine. The enzyme also helps break down certain types of fats (lipids) and cholesterol.
Where is methylmalonyl-CoA found?
Methylmalonyl-CoA mutase
| Gene location (Human) | ||
|---|---|---|
| Chr. | Chromosome 6 (human) | |
| Band | 6p12.3 | 49,430,360 bp |
| 49,463,253 bp |
What is Methylmalonyl CoA Mutase deficiency?
Methylmalonyl-Coenzyme A mutase deficiency (MCM deficiency) is a type of methylmalonic acidemia caused by having too little methylmalonyl-CoA mutase. Methylmalonyl-CoA mutase (MCM) is one of the special proteins (enzymes) needed to breakdown certain amino acids found in the food we eat.
What is the role of the coenzyme vitamin B12 in the reaction catalyzed by Methylmalonyl CoA Mutase?
In the mitochondria, vitamin B12 is required for the enzyme methylmalonyl CoA mutase, which converts methylmalonyl CoA to succinyl CoA, a step in odd-chain fatty acid oxidation and ketogenic amino acid catabolism.
What is the importance of Methylmalonyl-CoA?
Methylmalonyl-CoA is the thioester consisting of coenzyme A linked to methylmalonic acid. It is an important intermediate in the biosynthesis of succinyl-CoA, which plays an essential role in the tricarboxylic acid cycle (aka the Citric Acid Cycle, or Krebs Cycle).
What is the difference between Mutase and isomerase?
The key difference between isomerase and mutase enzyme is that isomerase is a class of enzymes that can convert an isomer to another isomer form of the same molecule, whereas mutase enzyme is a type of isomerase enzyme that can change the position of a functional group in a molecule without changing the chemical …
How Methylmalonyl-CoA is formed?
Acetyl-CoA enters directly into the TCA cycle. Propionyl-CoA undergoes carboxylation, producing the isomer D methylmalonyl-CoA via propionyl-CoA carboxylase, on which epimerase then converts to its L form and is subsequently isomerized to succinyl-CoA via MCM (Lehninger et al., 1993).
Is methylmalonic acidemia fatal?
Methylmalonic acidemia (MMA) is a rare and potentially fatal genetic disorder that affects metabolism and multiple body systems that affects about one in 100,000 infants. It’s caused by a genetic defect that prevents the body from properly processing certain proteins.
What is Mut 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’s riboflavin good for?
It’s required for the proper development of the skin, lining of the digestive tract, blood cells, and brain function. People most commonly use riboflavin to prevent riboflavin deficiency, for migraine, and for high levels of homocysteine in the blood.
What is Adenosylcobalamin good for?
Adenosylcobalamin is an active form of vitamin B12, a water-soluble vitamin used as a nutritional supplement to treat vitamin B12 deficiency or pernicious anemia, stomatitis, as well as for other conditions like depression, panic attacks and anxiety. Adenosylcobalamin is also known as cobamide or dibencozide.
What is the function of mutase?
A mutase is an enzyme of the isomerase class that catalyzes the movement of a functional group from one position to another within the same molecule. In other words, mutases catalyze intramolecular group transfers.
What is isomerase used for?
By far the most common use of isomerases in industrial applications is in sugar manufacturing. Glucose isomerase (also known as xylose isomerase) catalyzes the conversion of D-xylose and D-glucose to D-xylulose and D-fructose.
What is the importance of methylmalonyl-CoA?
How can MMA levels be reduced?
A dose of 1,000 microg/day proved to be the most effective in lowering MMA levels to within normal limits. Serum tHcy was normalized in six of 11 subjects who had elevated tHcy pretreatment with oral Cbl alone and in one subject in combination with a multivitamin.
Is methylmalonic acidemia rare?
The Methylmalonic Acidemias occur at a rate of 1 in 50,000 to 1 in 100,000 live births.
How is methylmalonic acidemia 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.
What is methylmalonyl CoA mutase?
Methylmalonyl-CoA mutase is a mitochondrial homodimer apoenzyme (EC. 5. 4.99.2) that focuses on the catalysis of methylmalonyl CoA to succinyl CoA. The enzyme is bound to adenosylcobalamin, a hormonal derivative of vitamin B12 in order to function.
What enzyme catalyzes the isomerization of methylmalonyl-CoA to succinyl CoA?
This vitamin B 12 -dependent enzyme catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA in humans. Mutations in MUT gene may lead to various types of methylmalonic aciduria.
What is the role of vitamin B12 in methylmalonyl-CoA mutase?
Vitamin B(12) is an organometallic compound with important metabolic derivatives that act as cofactors of certain enzymes, which have been grouped into three subfamilies depending on their cofactors. Among them, methylmalonyl-CoA mutase (MCM) has been extensively studied.
What is the pathophysiology of methylmalonyl-CoA epimerase deficiency?
Methylmalonyl-CoA epimerase deficiency is a rare disorder associated with persistent elevations of propionate-related metabolites and methylmalonic acid. It may present with metabolic acidosis, ketosis, but known patients appear more clinically stable than those with severe forms of methylmalonic acidemia.