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Xanthinuria Type I
smpdb.ca/view/SMP0125727DiseaseXanthinuria Type I (Xanthine Dehydrogenase Deficiency) is a condition caused by an autosomal recessive mutation. The condition was discovered (though not diagnosed) in 1817, when stones formed of almost pure xanthine were first identifie...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreAdenine Phosphoribosyltransferase Deficiency (APRT)
smpdb.ca/view/SMP0125732DiseaseAdenine 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 moreMitochondrial DNA Depletion Syndrome-3
smpdb.ca/view/SMP0125734DiseaseMitochondrial 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/SMP0125735DiseaseMyoadenylate 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 morePurine Metabolism
smpdb.ca/view/SMP0000050MetabolicPurine is a water soluble, organic compound. Purines, including purines that have been substituted, are the most widely distributed kind of nitrogen-containing heterocycle in nature. The two most important purines are adenine and guanine...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreAdenosine Deaminase Deficiency
smpdb.ca/view/SMP0000144DiseaseAdenosine deaminiase deficiency (immunodeficiency) is an autosomal recessive disease caused by a muation in the ADA gene which codes for adenosine deaminase. A deficiency in this enzyme results in immunodeficiency and a decreased concent...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 morePurine Nucleoside Phosphorylase Deficiency
smpdb.ca/view/SMP0000210DiseasePurine nucleoside phosphorylase deficiency (Nucleoside phosphorylase; Immunodeficiency) is a rare disease causing severe immunodeficiency. The disease is caused by a mutation in the enzyme purine nucleoside phosphorylase. The enzyme is n...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreGout or Kelley-Seegmiller Syndrome
smpdb.ca/view/SMP0000365DiseaseGout, also called Kelley-Seegmiller syndrome, is a condition that is hereditary and causes an excess in the production of uric acid in the body. It is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. W...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 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 moreAdenine 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 more