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Pathway Description
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type, also known as methionine synthase deficiency or methylcobalamin deficiency, cblG type, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the methionine metabolim pathway. It is caused by a mutation in the MTR gene which encodes the enzyme methionine synthase. This enzyme is responsible for forming L-methionine and tetrahydrofolic acid from homocysteine and 5-methyltetrahydrofolic acid. When the enzyme is mutated, this leads to lower amounts of L-methionine in the cell, as well as increased levels of homocysteine. Methionine synthase deficiency is characterized by an increase in homocysteine levels in the body and excreted in the urine, as well as decreased levels of methionine in the blood. Symptoms include megaloblastic anemia, and can also include developmental delays, seisures and kidney failure. Treatment with vitamin B12, as well as folates and betaine is effective. It is estimated that methionine synthase deficiency affects less than 1 in 1,000,000 individuals.
References
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type References
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Methionine Metabolism References
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Pubmed: 10570962
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000570
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