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Cystathionine beta-Synthase Deficiency
smpdb.ca/view/SMP0000177DiseaseCystathionine 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 moreMethionine Adenosyltransferase Deficiency
smpdb.ca/view/SMP0000221DiseaseMethionine 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 moreHypermethioninemia
smpdb.ca/view/SMP0000341DiseaseHypermethioninemia 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 moreS-Adenosylhomocysteine (SAH) Hydrolase Deficiency
smpdb.ca/view/SMP0125680DiseaseS-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 moreMethionine Adenosyltransferase Deficiency
smpdb.ca/view/SMP0125683DiseaseMethionine 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 moreTriflusal Action Pathway
smpdb.ca/view/SMP0126548Drug actionTriflusal is a 2-acetoxy-4-trifluorobenzoic acid chemically related to acetylsalicylic acid. This drug has antithrombotic effects by inhibiting irreversibly the cycloxygenase-1 (COX-1) in the platelets. It is indicated as prophylaxis of ...
Galactosemia
smpdb.ca/view/SMP0000182DiseaseGalactosemia (GALT Deficiency; GALT; Galactose-1-Phosphate Uridylyltransferase Deficiency) is a rare genetic disorder caused by a mutation in the GALT gene which codes for galactose-1-phosphate uridylyltransferase. A deficiency in this e...
Galactose Metabolism
smpdb.ca/view/SMP0000043MetabolicThis pathway depicts the conversion of galactose into glucose, lactose, and other sugar intermediates that may be used for a range of metabolic process. Dietary sources of galactose are numerous, but some of the primary sources in the hu...
Galactosemia
smpdb.ca/view/SMP0125710DiseaseGalactosemia (GALT Deficiency; GALT; Galactose-1-Phosphate Uridylyltransferase Deficiency) is a rare genetic disorder caused by a mutation in the GALT gene which codes for galactose-1-phosphate uridylyltransferase. A deficiency in this e...
AICA-Ribosiduria
smpdb.ca/view/SMP0000168DiseaseAICA-ribosiduria is a metabolic disease caused by a defect in final steps of purine de novo biosynthesis. This defect is caused by a mutation in the ATIC which codes for bifunctional purine biosynthesis protein PURH. A deficiency in this...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 more