has material basis in germline mutation in MTR kidney disorder methylcobalamin deficiency type cblG https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type https://www.malacards.org/card/homocystinuria_megaloblastic_anemia_cblg_type https://www.malacards.org/card/methylmalonic_aciduria_and_homocystinuria_type_cblg HMAG homocystinuria-megaloblastic anemia, cblG complementation type GARD:0003577 NANDO:2201111 DOID:0050733 SCTID:721187005 cblG OMIM:250940 homocystinuria due to defect in methylation Cbl g MONDO:0009609 Orphanet:2170 DOID:0112256 homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type 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. methylcobalamin deficiency type cblG functional methionine synthase deficiency type cblG UMLS:C1855128 methylcobalamin deficiency Cbl G type MEDGEN:344426 homocystinuria without methylmalonic aciduria thrombotic microangiopathy