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Adenylosuccinate Lyase Deficiency
smpdb.ca/view/SMP0125722DiseaseAdenylosuccinate Lyase Deficiency. (Adenylosuccinase Deficiency ; Adenylosuccinate monophosphate lyase deficiency) is a rare autosomal recessive disease caused by a mutation in the ADSL gene which codes for adenylosuccinate lyase. A defi...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreXanthinuria Type II
smpdb.ca/view/SMP0125731DiseaseXanthinuria Type II (Xanthine Dehydrogenase Deficiency) 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 hypo...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreAICA-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 moreMolybdenum Cofactor Deficiency
smpdb.ca/view/SMP0000203DiseaseMolybdenium cofactor deficiency (Sulfite oxidase deficiency) is caused by mutations in the genes MOCS1 and MOCS2 in the formation of molybdenum cofactor. A molybdenum-containing cofactor is essential to the function of 3 enzymes: sulfite...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 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 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 moreThioguanine 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 moreMitochondrial DNA Depletion Syndrome-3
smpdb.ca/view/SMP0000536DiseaseMitochondrial DNA depletion syndromes are a group of autosomal recessive disorders. They are characterized by decreased levels of mitochondrial DNA (mtDNA), resulting in decreased energy production. Mitochondrial DNA depletion syndrome-3...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMyoadenylate Deaminase Deficiency
smpdb.ca/view/SMP0000537DiseaseMyoadenylate deaminase deficiency, also called adenosine monophosphate (AMP) deaminase deficiency, is an common autosomal recessive disorder caused by a defective AMP deaminase 1. AMP deaminase 1 catalyzes the conversion of inosinic acid...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMolybdenum Cofactor Deficiency
smpdb.ca/view/SMP0125725DiseaseMolybdenium cofactor deficiency (Sulfite oxidase deficiency) is caused by mutations in the genes MOCS1 and MOCS2 in the formation of molybdenum cofactor. A molybdenum-containing cofactor is essential to the function of 3 enzymes: sulfite...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 more