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 …

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 …

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 …

Cobalamin and folate deficiency: acquired and hereditary disorders in children.

DS Rosenblatt, VM Whitehead - Seminars in hematology, 1999 - europepmc.org
This review highlights the features of cobalamin and folate deficiency and insufficiency that
are particular to children. Maternal deficiency of cobalamin and insufficiency or deficiency of …

Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism

DS Rosenblatt, D Watkins - Genetic Disorders and the Fetus, 2021 - Wiley Online Library
Folate and cobalamin (vitamin B12) are B group vitamins that play interacting roles in
cellular metabolism. Hereditary folate malabsorption results in a specific deficiency of folate …

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 …

[HTML][HTML] Genetic defects in folate and cobalamin pathways affecting the brain

SH Kirsch, W Herrmann, R Obeid - Clinical Chemistry and Laboratory …, 2013 - degruyter.com
Folate and cobalamin are necessary for early brain development and function. Deficiency of
folate or cobalamin during pregnancy can cause severe malformation in the central nervous …

The clinical presentation of cobalamin‐related disorders: from acquired deficiencies to inborn errors of absorption and intracellular pathways

M Huemer, MR Baumgartner - Journal of inherited metabolic …, 2019 - Wiley Online Library
This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …

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 …

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 …