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S-Adenosylhomocysteine (SAH) Hydrolase Deficiency
smpdb.ca/view/SMP0000214DiseaseS-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 moreGlycine N-Methyltransferase Deficiency
smpdb.ca/view/SMP0000222DiseaseGlycine 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 moreHomocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type
smpdb.ca/view/SMP0000570DiseaseHomocystinuria-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 moreCystathionine beta-Synthase Deficiency
smpdb.ca/view/SMP0125678DiseaseCystathionine 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 moreMethylenetetrahydrofolate Reductase Deficiency (MTHFRD)
smpdb.ca/view/SMP0125682DiseaseMethylenetetrahydrofolate 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 moreAzathioprine Action Pathway (New)
smpdb.ca/view/SMP0126488Drug actionAzathioprine is an immunosuppressor prodrug. It is used to treat rheumatoid arthritis, Crohn's disease, and ulcerative colitis. Also, azathioprine is used in the prevention of renal transplant rejection. This molecule is the prodrug of 6...
Drugs: Tetrahydrofolic acid · Ademetionine · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +13 morePurine Metabolism
smpdb.ca/view/SMP0000050MetabolicPurine is a water soluble, organic compound. Purines, including purines that have been substituted, are the most widely distributed kind of nitrogen-containing heterocycle in nature. The two most important purines are adenine and guanine...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreAdenosine Deaminase Deficiency
smpdb.ca/view/SMP0000144DiseaseAdenosine deaminiase deficiency (immunodeficiency) is an autosomal recessive disease caused by a muation in the ADA gene which codes for adenosine deaminase. A deficiency in this enzyme results in immunodeficiency and a decreased concent...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 morePurine Nucleoside Phosphorylase Deficiency
smpdb.ca/view/SMP0000210DiseasePurine nucleoside phosphorylase deficiency (Nucleoside phosphorylase; Immunodeficiency) is a rare disease causing severe immunodeficiency. The disease is caused by a mutation in the enzyme purine nucleoside phosphorylase. The enzyme is n...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreGout or Kelley-Seegmiller Syndrome
smpdb.ca/view/SMP0000365DiseaseGout, also called Kelley-Seegmiller syndrome, is a condition that is hereditary and causes an excess in the production of uric acid in the body. It is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. W...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 more