What enzyme is deficient in methylmalonic acidemia?

Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM, EC 5.4.

What are the symptoms of methylmalonic acidemia?

Symptoms may include lethargy, failure to thrive, recurrent vomiting, acidosis, dehydration, respiratory distress, diminished muscle tone, developmental retardation, seizures and/or an enlarged liver. Laboratory findings include an abnormally high amount of methylmalonic acid in the blood and urine.

Is methylmalonic acidemia dominant or recessive?

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.

How do you treat MMA?

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 MMA in medicine?

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.

Is methylmalonic acidemia fatal?

Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated.

How is citrullinemia caused?

Mutations in the ASS1 and SLC25A13 genes cause citrullinemia. The proteins produced from these genes play roles in the urea cycle. The urea cycle is a sequence of chemical reactions that takes place in liver cells. These reactions process excess nitrogen that is generated when protein is used by the body.

What is MMA (methylmalonic acidemia)?

Methylmalonic acidemia (MMA) is a rare and serious genetic disorder that affects multiple body systems. It can potentially cause coma and death, particularly if not correctly diagnosed and treated. Due to a genetic defect, the body is unable to properly process certain parts of proteins, leading to the symptoms of the condition.

What is the long-term outcome of methylmalonic acidemia (Mal)?

The long-term outcome in methylmalonic acidemia varies. [2] The age at which symptoms first occur and the severity of symptoms are different from person to person. In general, early diagnosis and treatment is associated with a better outcome.

What additional testing is required for diagnosis of methylmalonic acidemia?

Additional testing required for diagnosis may include: Genetic testing for mutations in one of the genes associated with methylmalonic acidemia [2] [6] An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result.

Methylmalonic acidemia is inherited in an autosomal recessive pattern. People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected).