methylcobalamin deficiency type cblG

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 hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.

Synonyms

• HMAG
• cblG
• functional methionine synthase deficiency type cblG
• homocystinuria due to defect in methylation Cbl g
• homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type
• homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type
• homocystinuria-megaloblastic anemia, cblG complementation type
• methionine synthase deficiency
• methylcobalamin deficiency Cbl G type
• methylcobalamin deficiency type cblG
• methylcobalamin deficiency, cblG type
• methylmalonic aciduria and homocystinuria type cblG