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Ethambutol Action Pathway
smpdb.ca/view/SMP0718083Drug actionEthambutol is a bacteriostatic antitubercular agent whose primary action targets the unique mycobacterial cell wall. After entering Mycobacterium tuberculosis cells, ethambutol specifically inhibits arabinosyltransferase enzymes (encoded...
Pantothenate and CoA Biosynthesis
smpdb.ca/view/SMP0000027MetabolicPantothenate, also called vitamin B5, is a nutrient that everyone requires in their diet. The nutrient gets its name from the greek word “pantothen” which means “from everywhere.” The reason it is called this is because pantothenic acid ...
Pyrimidine Metabolism
smpdb.ca/view/SMP0000046MetabolicA group of heterocyclic aromatic organic compound, pyrimidines are similar in structure to benzene and pyridine and count the nucleic acids cytosine, thymine, and uracil as structural derivatives. The following pathway illustrates a many...
beta-Ureidopropionase Deficiency
smpdb.ca/view/SMP0000172DiseaseBeta-ureidopropionase deficiency (Beta Alanine-Synthase Deficiency, UPB1, BUP1) is an autosomal recessive disease caused by mutations in the UPB1 gene which codes for beta-ureidopropionase. A deficiency in this enzyme results in accumula...
Glutaric Aciduria Type I
smpdb.ca/view/SMP0000185DiseaseTreatment includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreMNGIE (Mitochondrial Neurogastrointestinal Encephalopathy)
smpdb.ca/view/SMP0000202DiseaseMyoneurogastrointestinal encephalopathy, or mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), is a multisystem disorder caused by mutations in the gene encoding thymidine phosphorylase, which normally uses thymidine an...
Hyperprolinemia Type I
smpdb.ca/view/SMP0000361DiseaseHyperprolinemia type I (HPI, proline oxidase deficiency) is caused by mutation in the proline dehydrogenase gene (PRODH), which codes for proline dehydrogenase (proline oxidase). This enzyme converts proline to delta-1-pyrroline-5-carbox...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreArginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
smpdb.ca/view/SMP0000362DiseaseArginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency, Creatine Deficiency Syndrome, Creatine Deficiency due to AGAT Deficiency, GATM Deficiency) is caused by mutation in the GATM gene, which codes for L-arginine:glycine amidi...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreCreatine Deficiency, Guanidinoacetate Methyltransferase Deficiency
smpdb.ca/view/SMP0000504DiseaseGuanidinoacetate methyltransferase deficiency, also called GAMT deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of creatine metabolism caused by a defective guanidinoacetate methyltransferase (GAMT...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreHyperornithinemia with Gyrate Atrophy (HOGA)
smpdb.ca/view/SMP0000505DiseaseHyperornithinemia with gyrate atrophy (HOGA), also known as gyrate atrophy of the choroid and retina, OAT deficiency, ornithine aminotransferase deficiency, ornithine keto acid aminotransferase deficiency) is an autosomal recessive disor...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 more