A 4-year-old male with mental retardation, self-mutilation, and hyperuricemia is likely to have a deficiency of an enzyme involved in the:
Adenosine deaminase is an enzyme that is deficient in individuals with the autosomal recessive form of SCID, and hypoxanthine-guanine phosphoribosyl transferase (HGPRT), an enzyme of the purine salvage pathway for recycling guanine and hypoxanthine that is deficient in individuals with the X-linked recessive disorder Lesch-Nyhan syndrome.
Conversion of homogentisic acid to methylacetoacetate
Degradation of galactocerebroside
Breakdown of branched-chain amino acids
Recycling of guanine and hypoxanthine