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 there a cure for methylmalonic acidemia?
Long-Term Treatments Liver transplant is also an option for some people with MMA. It doesn’t cure the disease, but it can help a person experience less frequent and less severe decompensations. 25 Kidney transplant might also be needed for people with severe kidney disease.
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 MMA treated?
Methylmalonic acidemia is caused by changes in several different genes and is inherited in an autosomal recessive fashion. Treatment includes aggressive management of decompensation events, a low-protein diet, certain medications, antibiotics and, in some cases, liver and kidney transplantation.
What causes methylmalonic acidemia?
Mutations in the MMUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long term effects of methylmalonic acidemia depend on which gene is mutated and the severity of the mutation.
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.
Is methylmalonic acidemia inherited?
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 high methylmalonic acid?
Vitamin B-12 deficiency is the most common cause of MMA production. Foods that can increase B-12 levels include red meats, shellfish, fish, dairy, and cereals fortified with the vitamin.
What causes elevated methylmalonic acid?
Elevated levels of methylmalonic acid (MMA) result from inherited defects of enzymes involved in MMA metabolism or inherited or acquired deficiencies of vitamin B12 (cobalamin) or its downstream metabolites.
What is the prevalence of methylmalonic acidemia?
Prevalence of methylmalonic acidemia has been estimated at 1/48,000 to 1/61,000 in North America, and at 1/26,000 in China (these values may include patients with methylmalonic acidemia with homocystinuria; see this term).
What is the defective process in methylmalonic acidemia?
Methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. Patients typically present at the age of 1 month to 1 year with neurologic manifestations, such as seizure, encephalopathy, and stroke.
What is the cause of methylmalonic acidemia?
When does methylmalonic acidemia lead to a coma?
This condition, which can appear in early infancy or the first year of life, is characterized by excessive tiredness (lethargy), vomiting, dehydration, weak muscle tone (hypotonia), acid-base imbalance and in some patients, high levels of ammonia. Without treatment, the disorder can lead to coma and death in some cases.
What causes methylmalonic and propionic acidemia ( MMA )?
Methylmalonic and propionic acidemia (MMA/PA) are autosomal recessive disorders of propionate catabolism caused by defects in the enzymes methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC) characterized by accumulation of metabolites of branched-chain amino acid catabolism such as 3-hydroxypropionic acid, methylcitric acid and/or
Can a mutation in MCEE cause methylmalonic acidemia?
Mutations in the MCEE gene, which encodes the methylmalonyl CoA epimerase protein, also referred to as methylmalonyl racemase, will cause a much more mild form of the disorder than the related methymalonyl CoA mutase variant.
What kind of metabolic disorder is methylmalonic aciduria?
Methylmalonic acidemia , also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic acidemia.
