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Methylenetetrahydrofolate Reductase Deficiency (MTHFRD)
smpdb.ca/view/SMP0000340DiseaseMethylenetetrahydrofolate 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
smpdb.ca/view/SMP0000427Drug actionAzathioprine is a purine antimetabolite prodrug that exerts cytotoxic effects via three mechanisms: via incorporation of thiodeoxyguanosine triphosphate into DNA and thioguanosine triphosphate into RNA, inhibition of de novo synthesis of...
Drugs: Tetrahydrofolic acid · Ademetionine · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid +27 moreMercaptopurine Action Pathway
smpdb.ca/view/SMP0000428Drug actionMercaptopurine is a purine antimetabolite prodrug that exerts cytotoxic effects via three mechanisms: via incorporation of thiodeoxyguanosine triphosphate into DNA and thioguanosine triphosphate into RNA, inhibition of de novo synthesis ...
Drugs: Tetrahydrofolic acid · Ademetionine · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid +26 moreXanthinuria Type I
smpdb.ca/view/SMP0000512DiseaseXanthinuria Type I is a condition caused by an autosomal recessive mutation. The condition was discovered (though not diagnosed) in 1817, when stones formed of almost pure xanthine were first identified by Marcet. The symptoms arise beca...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreSalicylic Acid Action Pathway
smpdb.ca/view/SMP0000709Drug actionSalicylic acid (also named rutranex or salonil) is a nonsteroidal anti-inflammatory drug. Salicylic acid is also an important active metabolite of aspirin (acetylsalicylic acid). It can be used to reduce pain and fever. Salicylic acid ca...
Drugs: Glutamic acid · Glutathione · Dinoprostone · Salicylic acid · Calcium · Magnesium cation +5 moreNAD+ Signalling Pathway (Cancer)
smpdb.ca/view/SMP0083297SignalingNAD+-dependent signalling pathways regulate many fundamental processes such as DNA repair, DNA transcription, cell proliferation, cell survival, cell cycle progression, apoptosis, and metabolism. These pathways are all linked to cancer d...
Metabolism and Physiological Effects of Uric acid
smpdb.ca/view/SMP0124845MetabolicAdenosine then reacts with water to form inosine and ammonia using the enzyme adenosine deaminase. Inosine goes on to form hypoxanthine through the enzyme purine nucleoside phosphorylase.
Hypermethioninemia
smpdb.ca/view/SMP0125679DiseaseHypermethioninemia 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 moreGlycine N-Methyltransferase Deficiency
smpdb.ca/view/SMP0125681DiseaseGlycine 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/SMP0125684DiseaseTreatment 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.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 more