Nucleotide salvage defects

Stable Identifier
R-HSA-9734207
Type
Pathway
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Nucleotide salvage defects
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Defects in APRT and HGPRT lead to synthesis of 2,8-dioxo-adenine and overproduction of uric acid, respectively, associated with kidney damage and other symptoms (Bollée et al. 2012; Fu & Jinnah 2012). Defects in ADA lead to accumulation of (deoxy)adenosine and consequent severe combined immunodeficiency (Akeson et al. 1988).
Literature References
PubMed ID Title Journal Year
3182793 Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts

Akeson, AL, Wiginton, DA, Dusing, MR, States, JC, Hutton, JJ

J Biol Chem 1988
22157001 Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene

Fu, R, Jinnah, HA

J Biol Chem 2012
22700886 Adenine phosphoribosyltransferase deficiency

Bollée, G, Harambat, J, Bensman, A, Knebelmann, B, Daudon, M, Ceballos-Picot, I

Clin J Am Soc Nephrol 2012
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
purine-pyrimidine metabolic disorder DOID:653 inborn errors of purine-pyrimidine metabolism
Cross References
Mondo
Authored
D'Eustachio, P  (2021-07-02)
Reviewed
Jassal, B  (2021-07-09)
Created
D'Eustachio, P  (2021-06-15)
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