methylcobalamin deficiency type cblG

Rare Disease

MONDO:0009609

Also Known As

functional methionine synthase deficiency type cblGmethylcobalamin deficiency type cblGHMAGcblGhomocystinuria due to defect in methylation Cbl ghomocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation typehomocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation typehomocystinuria-megaloblastic anemia, cblG complementation typemethionine synthase deficiencymethylcobalamin deficiency Cbl G typemethylcobalamin deficiency, cblG typemethylmalonic aciduria and homocystinuria type cblG

Definition

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.