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