Methylcobalamin deficiency cbl G type

Disease Overview

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. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxocobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.[10141][10142]

Synonyms

• Homocystinuria-megaloblastic anemia, cblG complementation type
• cblG
• Methionine synthase deficiency