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Functional methionine synthase deficiency (cblE and cblG): Clinical and biochemical heterogeneity

✍ Scribed by Watkin, David ;Rosenblatt, David S.


Book ID
102701747
Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
824 KB
Volume
34
Category
Article
ISSN
0148-7299

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Functional methionine synthase deficiency due to abnormal methylcobalamin metabolism causes megaloblastic anemia, moderate to severe developmental delay, lethargy, and anorexia in association with homocystinuria. Patients with this disorder of cobalamin metabolism can be classified into two separate

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The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase. Although earlier biochemical studies proposed that the methionine synthase enzyme might be activated by two different reducing systems, mutations were reported in on