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Nicotinate and Nicotinamide Metabolism
smpdb.ca/view/SMP0000048MetabolicNicotinate (niacin) and nicotinamide - more commonly known as vitamin B3 - are precursors of the coenzymes nicotinamide-adenine dinucleotide (NAD+) and nicotinamide-adenine dinucleotide phosphate (NADP+). NAD+ synthesis occurs either de ...
Purine 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 moreCystathionine beta-Synthase Deficiency
smpdb.ca/view/SMP0000177DiseaseCystathionine Beta-Synthase Deficiency (CBS Deficiency; Homocystinuria) is an autosomal recessive disease caused by a mutation in the CBS gene which codes for cystathionine beta-synthase. A deficiency in this enzyme results in accumulati...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 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 moreMethionine Adenosyltransferase Deficiency
smpdb.ca/view/SMP0000221DiseaseMethionine adenosyltransferase (MAT; Hypermethioninemia; MAT I/III deficiency) deficiency is caused by mutations in the MAT1A gene which causes isolated hypermethioninemia. MAT catalyzes the formation of adenosylmethionine from methionin...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreIntracellular Signalling Through Adenosine Receptor A2a and Adenosine
smpdb.ca/view/SMP0000320SignalingThe A2A receptor is responsible for regulating myocardial blood flow by vasodilating the coronary arteries, which increases blood flow to the myocardium, but may lead to hypotension. The A2A receptor is also expressed in the brain, where...
Drugs: ATP · Adenosine · Magnesium cation · Zinc · Cyclic adenosine monophosphate · Pyrophosphoric acidHypermethioninemia
smpdb.ca/view/SMP0000341DiseaseHypermethioninemia is a rare error of metabolism (IEM) which arises when there is a disfunction in the gene called AHCY. This gene is responsible for Adenosylhomocysteinase, an enzyme which takes S-adenosyl homocysteine as input, and pro...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreGout or Kelley-Seegmiller Syndrome
smpdb.ca/view/SMP0000365DiseaseUnlike Lesch-Nyhan syndrome, this condition does not present neurological conditions and can be treated with medication.
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 more