Methylmalonic aciduria

Methylmalonic aciduria can be called one of the rarest forms of hereditary organic acid. Disruption of uric acid metabolism has a huge impact on the activity of biochemical processes in the human body. Aciduria can have different causes, differing in the set of pathologies. Acidosis not only causes pain and unpleasant symptoms, but can also lead to serious consequences and even death. This disease is especially dangerous for people undergoing treatment, as well as for patients with

Fumarase deficiency acidemia is an inherited defect in the oxidation of isopropylated fatty acid derivatives: methylmalonic acid (MMA) and propionic acid. MMA is necessary for metabolism in brain and skeletal tissues. The accumulation of the coenzyme methylcobalamin is disrupted, and the level of cobalamin increases. Cobalamin reduces the activity of methylcobalamin-dependent metabolic processes in tissues, including neuroglia, accelerating their metabolism, the level of creatinine (in urine and blood), glucose (in blood) decreases. Muscle tone decreases due to symptoms of neurogenic edema. Characterized by a pronounced cognitive deficit that develops at an early stage of the disease and does not depend on the severity of changes in the level of methylcobalam in the blood. Decreased enzyme activity leads to excess production of MMA, which is transported through the kidneys, where it is converted into water and CO2. Enzyme activity is restored after the use of L-homocysteine. The disease is inherited as an X-linked recessive.

Defective alleles of the FMN2 gene can cause a recessive or dominant phenotype. The diagnosis is made on