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Purine Nucleoside Phosphorylase Deficiency
smpdb.ca/view/SMP0125728DiseaseThe disease results in accumulation of guanosine, inosine, and uric acid in serum; and orotic acid in some cases in the urine. … The disease is caused by a mutation in the enzyme purine nucleoside phosphorylase. The enzyme is necessary for purine breakdown.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 morePurine Metabolism
smpdb.ca/view/SMP0000050MetabolicIMP creates a fork in the road for the creation of purine, as it can either become GMP or AMP. … Beginning from AMP, the enzymes AMP deaminase and nucleotidase work in concert to generate inosine.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreAdenosine Deaminase Deficiency
smpdb.ca/view/SMP0000144DiseaseA deficiency in this enzyme results in immunodeficiency and a decreased concentration of lymphocytes in blood. … Adenosine deaminiase deficiency (immunodeficiency) is an autosomal recessive disease caused by a muation in the ADA gene which codes for adenosine deaminase.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 morePurine Nucleoside Phosphorylase Deficiency
smpdb.ca/view/SMP0000210DiseaseThe disease results in accumulation of guanosine, inosine, and uric acid in serum; and orotic acid in some cases in the urine. … The disease is caused by a mutation in the enzyme purine nucleoside phosphorylase. The enzyme is necessary for purine breakdown.
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. … When uric acid builds up as it is being overproduced, needle-like crystals are formed and can provoke sudden attacks of pain in the joints, the big toe and in other places around the body.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreXanthinuria Type II
smpdb.ca/view/SMP0000513DiseaseSymptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreAdenine Phosphoribosyltransferase Deficiency (APRT)
smpdb.ca/view/SMP0000535DiseaseAPRT deficiency is estimated to affect 1 in 27 000 people in Japan. APRTD is rarer in Europe, where it affects 1 in 50 000 to 100 000 people. … APRT is involved in the nucleotide salvage pathway, which provides an alternative, and energetically more efficient route to nucleotide biosynthesis in humans and most other animals.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreAdenylosuccinate Lyase Deficiency
smpdb.ca/view/SMP0125722DiseaseA deficiency in this enzyme results in accumulation of succinyladenosine in plasma, spinal fluid, and urine. … (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.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreGout or Kelley-Seegmiller Syndrome
smpdb.ca/view/SMP0125723DiseaseGout, also called Kelley-Seegmiller syndrome, is a condition that is hereditary and causes an excess in the production of uric acid in the body. … When uric acid builds up as it is being overproduced, needle-like crystals are formed and can provoke sudden attacks of pain in the joints, the big toe and in other places around the body.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreXanthinuria Type II
smpdb.ca/view/SMP0125731DiseaseSymptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 more