Search
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 moreGout or Kelley-Seegmiller Syndrome
smpdb.ca/view/SMP0125723DiseaseUnlike 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/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 moreBetaine Metabolism
smpdb.ca/view/SMP0000123MetabolicBetaine (or trimethylglycine) is similar to choline (trimethylaminoethanol) but differs in choline's terminal carboxylic acid group trimethylglycine is reduced to a hydroxyl group. Betaine is obtained from diet as betaine or compounds co...
AICA-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 moreS-Adenosylhomocysteine (SAH) Hydrolase Deficiency
smpdb.ca/view/SMP0000214DiseaseThe accumulation of methionine as a result of AHCY deficiency may lead to signs and symptoms associated with hypermethioninemia, including mental and motor retardation, dysmorphism (unusual facial features
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 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 moreGlycine N-Methyltransferase Deficiency
smpdb.ca/view/SMP0000222DiseaseGlycine N-methyltransferase deficiency, also called GNMT deficiency, is an autosomal recessive disorder of methionine metabolism caused by a defective glycine N-methyltransferase (GNMT). GNMT catalyzes the conversion of glycine into N-me...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreIntracellular Signalling Through Adenosine Receptor A2b and Adenosine
smpdb.ca/view/SMP0000321SignalingAdenosine is thought to play a role in the pathophysiology of asthma. Stimulation of A2B can induce production of interleukin-8 mast cells. The adenosine receptor A2b activates G(s) proteins which lead to the activation of adenylyl cycla...
Drugs: ATP · Adenosine · Magnesium cation · Zinc · Cyclic adenosine monophosphate · Pyrophosphoric acid