methylmalonic acidaemia BrE
methylmalonic acidemia AmE
methylmalonic aciduria

In addition to phenylketonuria (PKU) there are other inherited disorders of amino acid metabolism such as citrullinaemia and methylmalonic acidaemia.

From early 2002 the introduction of tandem mass spectrometry will expand screening of babies, by detection of metabolites of a number of serious conditions, such as MCAD deficiency, methylmalonic acidaemia (MMA) and citrullinaemia.

Aldamiz-Echevarria, L., Sanjurjo, P., Elorz, J., Prieto, J. A., Perez, C., Andrade, F., and Rodriguez-Soriano, J. Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia.

The following are the known genotypes responsible for methylmalonic acidemia:

Deficiency in this enzyme accounts for 60% of the cases of methylmalonic acidemia.

An excess is associated with methylmalonic acidemia.

Mutations are associated with methylmalonic acidemia.

The presence of methylmalonic acidemia can also be indicated through the use of a CT scan or ammonia test.

Mutations leading to defects in vitamin B12 metabolism or in its transport frequently result in the development of methylmalonic acidemia.

Methylmalonic acidemia has varying diagnoses, treatment requirements and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder.

Mut-, cblB, and cblA versions of methylmalonic acidemia have been found to be cobalamin responsive.

Methylmalonic acidemia - an autosomal recessive metabolic disorder that mimics the effects of ethylene glycol poisoning.

Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia.

These include 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia.

While methylmalonic acidemia has a variety of causes, both genetic and dietary, methylmalonyl CoA mutase deficiency is an autosomal recessive genetic disorder.

Common treatment methods for MMA include a liver transplant or a liver and kidney transplant to combat the renal disease of methylmalonic acidemia.

The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.

Newborn screening using tandem mass spectrometry can detect several organic acidemias, including propionic acidemia, methylmalonic acidemia and isovaleric acidemia.

The combination of inhibited urea synthesis and poor protein metabolism, as well as a weakly replenished tricarboxylic acid cycle contribute to the symptoms of methylmalonic acidemia.

Methylmalonic acidemia (MMA), also called methylmalonic aciduria, first characterized by Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder.

Due to the severity and rapidity in which this disorder can cause complications when left undiagnosed, screening for methylmalonic acidemia is often included in the newborn screening exam.

Methylmalonic acidemia was infamously misdiagnosed as ethylene glycol poisoning in Ryan Stalling during Patricia Stalling murder trial in 1991, leading to her wrongful conviction.

She has a rare metabolic condition called methylmalonic acidemia (MMA) and has to be fed a low protein diet, or her body becomes blocked up with toxins and poisoned.

Examples of the former are propionic acidemia and methylmalonic acidemia, and examples of the latter are acute liver failure and hepatic cirrhosis with liver failure.

Though there are not distinct stages of the disease, Methylmalonic acidemia is a progressive condition, the symptoms of this disorder are compounded as the concentration of methylmalonic acid increases.

The inherited forms of methylmalonic acidemia cause defects in the metabolic pathway where methylmalonyl-coenzyme A (CoA) is converted into succinyl-CoA by the enzyme methylmalonyl-CoA mutase.

In methylmalonic acidemia, the body is unable to breakdown the amino acids methionine, threonine, isoleucine and valine, as a result methylmalonic acid builds up in the blood and tissues.

When the amount of B is insufficient for the conversion of cofactor methylmalonyl-CoA into succinyl-CoA, the buildup of unused methylmalonyl-CoA eventually leads to methylmalonic acidemia.

Mutations in this gene have been shown to cause combined malonic and methylmalonic aciduria.

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program.

MMAA is an acronym for Methylmalonic aciduria type A protein, mitochondrial.

Mutations in the gene are the cause of vitamin B-dependent methylmalonic aciduria linked to the cblB complementation group.

A defect in methylmalonyl-CoA mutase enzyme results in methylmalonic aciduria, a dangerous disorder that causes a lowering of blood pH.

Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria.

Organic acidurias (Propionic Acidemia, Methylmalonic Aciduria, Isovaleric Aciduria)

Methylmalonic acidemia (MMA), also called methylmalonic aciduria, first characterized by Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder.

Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.

However, if the patient has inborn errors in the methyltransfer pathway (cobalamin C disease, combined methylmalonic aciduria and homocystinuria), treatment with intravenous, intramuscular hydroxocobalamin or transdermal B is needed.

Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin.

The diagnosis of sepiapterin reductase deficiency in a patient at the age of 14 years was delayed by an earlier diagnosis of an initially unclassified form of methylmalonic aciduria at the age of 2.

The research, which began more than 20 years ago, will allow doctors to perform earlier diagnosis, assess 'carriers' of the disease-Combined Methylmalonic aciduria (MMA) and Homocystinuria-and open the door to new and improved treatments for this debilitating disease.

Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of malonic acid and methylmalonic acid, because deficiencies in this gene cause these metabolites to not be broken down.

A deficiency of this enzyme is responsible for an inherited disorder of metabolism, Methylmalonyl-CoA mutase deficiency, which is one of the causes of methylmalonic acidemia (also referred to as methylmalonic aciduria or MMA).

Legally blind but able to see to a limited extent, Nicole Klimuk is living with the results of retinal deterioration that occurred when she was an infant - a symptom of an inherited disease called methylmalonic aciduria, so rare that when doctors diagnosed it, they told her mother there were only seven other known cases in the United States.