Juvenile megaloblastic anaemia 1 (OMIM # 261100) is a rare autosomic disorder characterized by selective cobalamin mal-absorption and inconstant proteinuria produced by mutations in either CUBN or AMN genes. Amnionless, the gene product of AMN, is a transmembrane protein that binds tightly to the N-terminal end of cubilin, the gene product of CUBN. Cubilin binds to intrinsic factor-cobalamin co...

et al., 1952). In liver disease or folic acid deficiency, abnormal quantities ofthe metabolites, urocanic acid and formiminoglutamic acid (Figlu), appear in the urine following an oral dose of the amino acid L-histidine (Luhby, Cooperman, and Teller, 1959; Spray and Witts, 1959; Kohn, Mollin, and Rosenbach, 1961; Carter, Schaffner, and Heller, 1960; Bennett and Chanarin, 1962; Merritt et al., 1...

BACKGROUND Current tests for evaluation of vitamin B(12) absorption are problematic because they involve the use of radioactively labeled vitamin B(12). We describe a vitamin B(12) absorption test that circumvents this problem. METHODS We measured cobalamin or transcobalamin saturated with cobalamin (holo-TC) 24 h after three 9-microg doses of vitamin B(12) given orally at 6-h intervals. We s...

Abnormalities in the serum proteins have been described in several disorders of thyroid function (Man et al., 1940; Lewis and McCullagh, 1944; Lamberg and Grasbeck, 1955) and in particular in auto-immune thyroiditis, where a raised serum y-globulin has been found (Fromm et al., 1953; Luxton and Cooke, 1956; Skillern et al., 1956; Doniach and Hudson, 1957; Greene et al., 1958; Roitt et al., 1958...

Selective malabsorption of vitamin B12 without proteinuria or structural renal tract anomaly The first reports by Imerslund' and Grasbeck2 of children presenting with a megaloblastic anaemia due to vitamin B1 2 deficiency but with normal gastric intrinsic factor activity (Imerslund-Grasbeck syndrome or selective malabsorption of vitamin BI 2) described associated proteinuria. In a review of 49 ...