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Displaying results 141 - 146 of 146 in total
  1. Pathway

    Mercaptopurine Action Pathway (New)

    smpdb.ca/view/SMP0126475
    Drug action

    This drug is a purine analogue, so it acts by interfering with the nucleic acid biosynthesis in cells. More specifically, this molecule is an analogue of the adenine and hypoxanthine bases. … By being an analogue of those, mercaptopurine competes with them for the hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) enzyme and is itself converted to thioinosinic acid (TIMP).

    Drugs: Tetrahydrofolic acid · Ademetionine · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +12 more
  2. Pathway

    Adenosine Deaminase Deficiency

    smpdb.ca/view/SMP0125721
    Disease

    Adenosine 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 more
  3. Pathway

    Xanthinuria Type I

    smpdb.ca/view/SMP0125727
    Disease

    Xanthinuria 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 more
  4. Pathway

    Adenine Phosphoribosyltransferase Deficiency (APRT)

    smpdb.ca/view/SMP0125732
    Disease

    APRTD is treatable with regular doses of allopurinol, which inhibits xanthine dehydrogenase activity. APRTD can also be treated with a low-purine diet and a high fluid intake. … It is an autosomal recessive disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase (APRT).

    Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 more
  5. Pathway

    Mitochondrial DNA Depletion Syndrome-3

    smpdb.ca/view/SMP0125734
    Disease

    Symptoms of DGUOK deficiency can arise in the form of a multi-system disease in neonates or an isolated hepatic disease in infancy, with the former being more common.

    Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 more
  6. Pathway

    Myoadenylate Deaminase Deficiency

    smpdb.ca/view/SMP0125735
    Disease

    Treatment with methotrexate is very effective. It is estimated that affects 1 in 50 to 100 people in white population and affecting African American 1 in 40,000 people.

    Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 more