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Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.
Although methylmalonic acidemia has a variety of causes, both genetic and dietary, methylmalonyl CoA mutase deficiency is an autosomal recessive genetic disorder. Patients with the deficiency either have a complete gene lesion, designated as mut0 or a partial mutation in the form of a frameshift designated as mut-.
One approach to reduce the accumulating amount of malonic acid and methylmalonic acid is diet. According to the state of knowledge in 1998, a high-carbohydrate and low-protein diet is recommended. [8] Changes in malonic acid and methylmalonic acid excretion can be seen as early as 24-36 h after a change in diet. [8]
As both malonic acid and methylmalonic acid levels are elevated in malonic aciduria, it used to be referred to as combined malonic and methylmalonic aciduria (CMAMMA). Although ACSF3 deficiency was not discovered until later, the term combined malonic and methylmalonic aciduria has now become established in medical databases for ACSF3 deficiency.
Methylmalonic acid is elevated in 90–98% of patients with vitamin B 12 deficiency. It has lower specificity since 20–25% of patients over the age of 70 have elevated levels of methylmalonic acid, but 25–33% of them do not have B 12 deficiency. For this reason, the testing of methylmalonic acid levels is not routinely recommended in the ...
Methylmalonyl-CoA mutase (EC 5.4.99.2, MCM), mitochondrial, also known as methylmalonyl-CoA isomerase, is a protein that in humans is encoded by the MUT gene.This vitamin B 12-dependent enzyme catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA in humans.
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 ).
Hyperpigmentation can be diffuse or focal, affecting such areas as the face and the back of the hands. Melanin is produced by melanocytes at the lower layer of the epidermis . Melanin is a class of pigment responsible for producing color in the body in places such as the eyes, skin, and hair.