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Homocarnosinosis
smpdb.ca/view/SMP0000385DiseaseHomocarnosinosis is caused by an inherited defect in serum carnosinase, which converts homocarnosine to GABA (gamma aminobutyric acid). A defect in serum carnosinase causes accumulation of the brain specific dipeptide homocarnosine (Hca)...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 moreTay-Sachs Disease
smpdb.ca/view/SMP0000390DiseaseTay-Sachs Disease (TSD; GM2-Gangliosidosis, type I; B-Variant GM2-Gangliosidosis; Hexosaminidase A Deficiency; HEXA Deficiency; Tay-Sachs Disease Variant B1), is an autosomal recessive lysosomal storage disease. TSD is caused by a mutati...
Disulfiram Action Pathway
smpdb.ca/view/SMP0000429Drug actionDisulfiram is a drug used in the treatment of cocaine addiction and chronic alcoholism. With regards to cocaine addiction, cocaine inhibits dopamine reuptake by blocking dopamine transporter 1 (DAT1). This increases dopamine concentratio...
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Adenosine phosphate · Tyrosine +27 moreMethotrexate Action Pathway
smpdb.ca/view/SMP0000432Drug actionMethotrexate is an antifolate antimetabolite used in the treatment of rheumatoid arthritis and cancer. Methotrexate is taken up into the cell by human reduced folate carriers (SLC19A1). In the cytoplasm, methotrexate is polyglutamated by...
Ureidopropionase Deficiency
smpdb.ca/view/SMP0000492DiseaseHyper-beta-aminoisobutyric aciduria or BAIB urinary excretion is a common, autosomal recessive condition characterized by high levels of excretion of beta-aminoisobutyric acid in the urine. It is probably the most common mendelian metabo...
beta-Mercaptolactate-Cysteine Disulfiduria
smpdb.ca/view/SMP0000499DiseaseMetcaptolactate-cysteine disulfiduria (MCDU) is an autosomal disorder that leads to the loss of function of the enzyme mercaptopyruvate sulfurtransferase. The condition is characterized by the urinary excretion of large amounts of a sulf...
Drugs: Pyridoxal phosphate · Pyruvic acid · Adenosine phosphate · Glutamic acid · Cysteine · NADH +6 moreXanthinuria Type II
smpdb.ca/view/SMP0000513DiseaseXanthinuria Type II is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. Xanthine dehydrogenase catalyzes the conversion of hypoxanthine into xanthine and conversio...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreIsovaleric Acidemia
smpdb.ca/view/SMP0000524DiseaseIsovaleric academia, also called IVA, is an extremely rare inherited inborn error of metabolism (IEM) of leucine metabolism. It is an autosomal recessive disorder that is caused by a deficiency of isovaleryl-CoA dehydrogenase. It is char...
Adenine Phosphoribosyltransferase Deficiency (APRT)
smpdb.ca/view/SMP0000535DiseaseAdenine phosphoribosyltransferase deficiency, which is also known as APRTD or APRT deficiency, is a rare inherited inborn error of metabolism (IEM) leading to the recurrent formation of kidney stones. It is an autosomal recessive disorde...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMethylenetetrahydrofolate Reductase Deficiency (MTHFRD)
smpdb.ca/view/SMP0000543DiseaseMethylenetetrahydrofolate 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...