… defects result from maternal folate and/or cobalamin insufficiency in the periconceptual … in
folate and cobalamin metabolism exacerbate the risk. Inborn errors of cobalamin metabolism …

… which are involved in the conversion of vitamin B12 (cobalamin) and folate to their active
co-… genetic disturbances of these processes are reviewed. Many, but not all of these disorders …

… of folate absorption, making autosomal-recessive inheritance likely. A cDNA for a putative
intestinal folate transporter has been cloned, and it is identical to that for the reduced folate …

… is usually low in patients with disorders affecting absorption and transport of Cbl, with the …
(Cobalamin Transport and Metabolism). Patients with disorders of intracellular Cbl metabolism …

… of cobalamin metabolism; actions of cobalamin on nucleic acid and protein function; and a
role for cobalamin in … Clinically, no gold standard has emerged for the diagnosis of cobalamin …

… which requires neither cobalamin or folate. Betaine arises from choline via choline oxidase
(reaction not shown). … of metabolic abnormalities in cobalamin and folate deficiency …

… cobalamin - folic acid - leukoencephalopathy - CblC - homocysteine Disorders of cobalamin
(vitamin B12) and folate metabolism that result in defective remethylation of homocysteine to …

… folate and cobalamin absorption and metabolism. It will then focus on four rare disorders, one
involving cobalamin … ) and three involving folate and cobalamin metabolism: deficiencies of …

… signs of inborn errors of cobalamin or folate metabolism, including several hundred with
complementation-confirmed diagnoses. By accurately classifying patient disorders into classes …

… Over the past three decades he has been involved with the classification of the inherited
disorders of folate and cobalamin and in the discovery of the underlying gene defects. …