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Displaying results 11 - 20 of 59 in total
  1. Pathway

    Cystathionine beta-Synthase Deficiency

    smpdb.ca/view/SMP0000177
    Disease

    Cystathionine Beta-Synthase Deficiency (CBS Deficiency; Homocystinuria) is an autosomal recessive disease caused by a mutation in the CBS gene which codes for cystathionine beta-synthase. A deficiency in this enzyme results in accumulati...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more
  2. Pathway

    Methionine Adenosyltransferase Deficiency

    smpdb.ca/view/SMP0000221
    Disease

    Methionine adenosyltransferase (MAT; Hypermethioninemia; MAT I/III deficiency) deficiency is caused by mutations in the MAT1A gene which causes isolated hypermethioninemia. MAT catalyzes the formation of adenosylmethionine from methionin...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more
  3. Pathway

    Hypermethioninemia

    smpdb.ca/view/SMP0000341
    Disease

    Hypermethioninemia is a rare error of metabolism (IEM) which arises when there is a disfunction in the gene called AHCY. This gene is responsible for Adenosylhomocysteinase, an enzyme which takes S-adenosyl homocysteine as input, and pro...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more
  4. Pathway

    S-Adenosylhomocysteine (SAH) Hydrolase Deficiency

    smpdb.ca/view/SMP0125680
    Disease

    S-Adenosylhomocysteine hydrolase deficiency, also known as AdoHcy hydrolase deficiency or adenosylhomocysteinase (AHCY) deficiency, is an autosomal recessive disorder characterized by a defective AHCY gene. AHCY codes for the enzyme S-ad...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more
  5. Pathway

    Methionine Adenosyltransferase Deficiency

    smpdb.ca/view/SMP0125683
    Disease

    Methionine adenosyltransferase (MAT; Hypermethioninemia; MAT I/III deficiency) deficiency is caused by mutations in the MAT1A gene which causes isolated hypermethioninemia. MAT catalyzes the formation of adenosylmethionine from methionin...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more
  6. Pathway

    Methionine Metabolism

    smpdb.ca/view/SMP0000033
    Metabolic

    Methionine metabolism is a process that is necessary for humans. Methionine metabolism in mammals happens within two pathways, a methionine cycle and a transsulfuration sequence. These pathways have three common reactions with both pathw...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more
  7. Pathway

    Methylenetetrahydrofolate Reductase Deficiency (MTHFRD)

    smpdb.ca/view/SMP0000340
    Disease

    Methylenetetrahydrofolate reductase deficiency (MTHFRD; Homocystinuria due to defect of n(5,10)-methylene THF deficiency) is caused by a defect in the MTHFR gene which codes for methylenetetrahydrofolate reductase. Methylenetetrahydrofol...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more
  8. Pathway

    Hypermethioninemia

    smpdb.ca/view/SMP0125679
    Disease

    Hypermethioninemia is a rare error of metabolism (IEM) which arises when there is a disfunction in the gene called AHCY. This gene is responsible for Adenosylhomocysteinase, an enzyme which takes S-adenosyl homocysteine as input, and pro...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more
  9. Pathway

    Glycine N-Methyltransferase Deficiency

    smpdb.ca/view/SMP0125681
    Disease

    Glycine N-methyltransferase deficiency, also called GNMT deficiency, is an autosomal recessive disorder of methionine metabolism caused by a defective glycine N-methyltransferase (GNMT). GNMT catalyzes the conversion of glycine into N-me...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more
  10. Pathway

    Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type

    smpdb.ca/view/SMP0125684
    Disease

    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 a...

    Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more