Legend:
Deficiencies in the synthesis and breakdown of purine nucleotides encompass many enzymatic steps which can lead to important metabolic disorders. The Repository has samples from four of these deficiencies including HPRT1, APRT, ADA, and AMPD1. By clicking on the symbol for the clinical disorder or enzymatic step in the diagram or the table, the list of the samples and the mutations in these samples appears. By clicking on the Gene Symbol a list of samples with characterized mutations appears.
References:
van Gennip, A.H. Defects in metabolism of purines and pyrimidines. Ned. Tijdschr. Klin. Chem. 24: 171-175 (2002).
Simmonds, A.H. (1995). "Adenine Phosphoribosyl Transferase Deficiency and 2,8-Dehydroxyadenine Lithiasis" In The Metabolic and Molecular Bases of Inherited Disease (pp. 1707-1724), edited by Charles Scriver, Arthur Beaudet, William Sly and David Valle. New York: McGraw-Hill, Inc.
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