What is cobalamin disorder?
Background Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic disorder consisting of an impaired intracellular synthesis of the 2 active forms of vitamin B12 (cobalamin), namely, adenosylcobalamin and methylcobalamin, that results in increased levels of …
What is cobalamin C deficiency?
Cobalamin C disease (cblC), also known as methylmalonic aciduria with homocystinuria, is an inherited. disease characterized by hypotonia, lethargy, mental retardation, seizures, vision problems, and blood-related. problems.
Is low B12 genetic?
Medical researchers have succeeded in decoding a novel cause of hereditary vitamin B12 deficiency. They have discovered an important gene that determines how vitamin B12 gets into cells. Their discovery enables the diagnosis and treatment of this rare genetic disease. Vitamin B12 is vital.
What is methylmalonic acidemia?
Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats. The result is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families. It is one of several conditions called an “inborn error of metabolism.”
What is MTR disease?
MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase) is a Protein Coding gene. Diseases associated with MTR include Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type and Neural Tube Defects, Folate-Sensitive.
Can methylmalonic acidemia be cured?
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.
Where is homocystinuria most common?
The most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800).