Disorders of Cobalamin and Folate Transport and Metabolism
作者： David Watkins , David S. Rosenblatt , Brian Fowler
DOI: 10.1007/978-3-662-49771-5_27
关键词:
摘要: For patients with inherited disorders affecting cobalamin (Cbl) absorption, the main clinical finding is megaloblastic anemia. Except for transcobalamin (TC) deficiency, serum Cbl level will usually be low. Patients of intracellular metabolism show elevations homocysteine or methylmalonic acid, either alone in combination. The not those that affect methylcobalamin (MeCbl) formation, major manifestations include anemia secondary to folate deficiency and neurological abnormalities presumably methionine elevation. findings adenosylcobalamin (AdoCbl) are elevated acid resultant acidosis.
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