Methylcobalamin deficiency cbl G type

Other Names: Homocystinuria-megaloblastic anemia, cblG complementation type; cblG; Methionine synthase deficiency

Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood.

Cause

Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms

Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia.

Treatment

Treatment generally includes regular doses of hydroxocobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.

NIH genetic and rare disease info

• NIH info on Methylcobalamin deficiency cbl G type

Methylcobalamin deficiency cbl G type is a rare disease.

Methylcobalamin deficiency cbl G type Resources
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