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Tyrosinemia Type I
smpdb.ca/view/SMP0000218DiseaseTyrosinemia type I, also known as fumarylacetoacetase or FAH deficiency, is the most severe type of tyrosinemia, a buildup of tyrosine in the body. It is caused by an autosomal recessive mutation in the the FAH gene that encodes for fuma...
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreXanthine Dehydrogenase Deficiency (Xanthinuria)
smpdb.ca/view/SMP0000220DiseaseThe rare genetic disorder, Xanthinuria (also referred to as xanthine oxidase deficiency) results from a deficiency of the enzyme xanthine oxidase. This enzyme deficiency causes the accumulation of: xanthine in the plasma, uric acid in se...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 morePyruvate Carboxylase Deficiency
smpdb.ca/view/SMP0000350DiseasePyruvate carboxylase deficiency is caused by mutation in the pyruvate carboxylase gene. Serine—pyruvate aminotransferase catalyzes the reaction of serine and pyruvate to produce 3-hydroxypyruvate and L-alanine, as well as the reaction fr...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Adenosine phosphate · Glutamic acid · Glycine +6 moreHyperprolinemia 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 moreLesch-Nyhan Syndrome (LNS)
smpdb.ca/view/SMP0000364DiseaseLesch-Nyhan Syndrome is a syndrome identified through its neurological, behavioural metabolic impact. It is characterized by a mental deficit and self-mutilation, accompanied with an overproduction of uric acid. A mutation of the HPRT1 g...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMethylmalonate Semialdehyde Dehydrogenase Deficiency
smpdb.ca/view/SMP0000384DiseaseMethylmalonate Semialdehyde Dehydrogenase Deficiency (MMSDH Deficiency; Aldehyde Dehydrogenase 6 Family, Member A1; ALDH6A1 Deficiency)is caused by a defect in methylmalonate semialdehyde dehydrogenase, which catalyzes the irreversible o...
Thioguanine Action Pathway (old)
smpdb.ca/view/SMP0000430Drug actionThioguanine is a purine antimetabolite prodrug closely related to mercaptopurine and similarly inhibits purine metabolism. The thioguanine pathway is shown as a part of the mercaptopurine pathway. Thioguanine exerts cytotoxic effects via...
Drugs: Tetrahydrofolic acid · Ademetionine · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid +27 more5-Oxoprolinase Deficiency
smpdb.ca/view/SMP0000500Disease5-Oxoprolinase deficiency, also called OPLAHD, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glutathione metabolism caused by a defective 5-oxoprolinase. 5-Oxoprolinase catalyzes the conversion of 5-oxopr...
gamma-Glutamyltranspeptidase Deficiency
smpdb.ca/view/SMP0000501DiseaseGamma-glutamyltranspeptidase deficiency, characterized by glutathionemia and glutathionuria, is an autosomal recessive disorder of glutathione metabolism caused by a defective gamma-glutamyl transpeptidase (GGT). GGT transfers glutamyl m...