Inherited disorders of cobalamin and folate absorption and metabolism

DS Rosenblatt, MI Shevell - Inborn Metabolic Diseases: Diagnosis and …, 1995 - Springer
Abstract Cobalamin (Cbl, vitamin B 12) is a widely distributed, cobalt-containing, water-
soluble vitamin that is not found in higher plants. Cb1 is needed for only two reactions in …

Genetic defects of folate and cobalamin metabolism

B Fowler - European journal of pediatrics, 1998 - Springer
Deficient activity of an enzyme can result from a defect in the conversion of the vitamin to a
co-enzyme as well from an abnormal apo-enzyme or disturbed binding of co-enzyme to …

Disorders of Cobalamin Metabolism

MR Baumgartner, DS Froese - … Guide to the Diagnosis, Treatment, and …, 2022 - Springer
Vitamin B12 (Cbl) is needed for just two metabolic reactions in man, the methylation of
homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA …

Disorders of cobalamin and folate transport and metabolism

DS Rosenblatt - Inborn Metabolic Diseases: Diagnosis and Treatment, 2000 - Springer
Patients with inherited disorders affecting cobalamin (Cbl) absorption or metabolism show
elevations of homocysteine or methylmalonic acid, either alone or in combination. For those …

Cobalamin and inborn errors of cobalamin absorption and metabolism

D Watkins, DS Rosenblatt - The Endocrinologist, 2001 - journals.lww.com
Cobalamin (Cbl), or vitamin B 12, is required for activity of the mitochondrial enzyme,
methylmalonyl-CoA mutase, and the cytoplasmic enzyme, methionine synthase. A number …

Disorders of Cobalamin and Folate Transport and Metabolism

B Fowler, DS Froese, D Watkins - Inborn Metabolic Diseases: Diagnosis …, 2022 - Springer
Abstract Vitamin B12 (cobalamin, Cbl) is a cofactor for just two enzymes, while various forms
of folate are coenzymes for a wide range of enzymes. Metabolism of both vitamins involve …

Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport.

CR Kapadia - The Gastroenterologist, 1995 - europepmc.org
All of vitamin B12 in nature is of microbial origin. Cobalamin, as vitamin B12 should correctly
be termed, is a large polar molecule that must be bound to specialized transport proteins to …

Inherited defects of cobalamin metabolism

D Watkins, DS Rosenblatt - Vitamin B12, 2017 - taylorfrancis.com
Inborn errors of cobalamin metabolism result in problems affecting multiple systems,
including hematologic, neurologic, ophthalmologic, dermatologic, cardiovascular and renal …

Disorders of cobalamin and folate transport and metabolism

D Watkins, DS Rosenblatt, B Fowler - Inborn Metabolic Diseases …, 2016 - Springer
Patients with disorders of intracellular Cbl metabolism typically have serum Cbl levels within
the reference range, although levels may be reduced in the cblF and cblJ disorders …

Cobalamin C defect: natural history, pathophysiology, and treatment

D Martinelli, F Deodato, C Dionisi-Vici - Journal of inherited metabolic …, 2011 - Springer
Abstract Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …