methylcobalamin deficiency type cblG
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.
MONDO:0005240
kidney disorder
excluded_subClassOf
MONDO:0019737
thrombotic microangiopathy
excluded_subClassOf
MONDO:0018964
homocystinuria without methylmalonic aciduria
is_a
HMAG
related
cblG
related
functional methionine synthase deficiency type cblG
exact
homocystinuria due to defect in methylation Cbl g
related
homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type
related
homocystinuria-megaloblastic anemia, cblG complementation type
related
methylcobalamin deficiency Cbl G type
related
methylcobalamin deficiency type cblG
exact
SPAC57A7.07c