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Chapter 41
Purine and Pyrimidine Metabolism
5
Biochemistry
03/30/2012

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Term
Deficiency in Purine Nucleoside Phosphorylase activity
Definition
Disorder of the immune system with compromised T-cell, mostly sparing B-cell immunity.
Recurrent infections
Neurologic complications
Age: 6 months-4 years
Term
Defective Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT)
Definition
Lesch-Nyhan Syndrome
-Mental Retardation
-Self Mutilation
Term
Hereditary Orotic Aciduria
Definition
Orotic Acid is excreted in the urine because OROTATE PHOSPHOIBOSYLTRANSFERASE AND OROTIDINE 5'-PHOSPHATE DECARBOXYLASE are defective
Term
Hereditary Orotic Aciduria
Definition
Pyrimidines cannot be synthesized, preventing normal growth
Tx: Oral administration of uridine
Term
Orotic Aciduria
Definition
Deficiency of ornithine transcarbamoylase
Excess carbamoyl phosphate from mitochondria leaks into the cytoplasm