Metabolic Defects - Other Metabolic Disorder
| Nucleic acid metabolism- Gout | Phosporibosyl pyrophosphate synthetase | Excessive production of uric acid, joint pain, swelling and possibly deafness | Drug treatment with allopurinol |
| Metal metabolism Hemochromatosis | Defect in iron absorption | Excess iron damages liver, heart, pancreas, skin, and joints. Fatal if left untreated. | Chelation therapy for removal of excess iron |
| Metal metabolism Wilson disease | Defect thought to be in transportation of copper | Excess copper accumulation in the body, liver disease, ring around iris, tremor, emotional and behavioral effects. | Administration of D-Penicillamine, zinc. Dialysis or liver transplantation |
| Lysosomal disorders Hurler syndrome (Mucopolysac charidoses I) | a- L- iduronidase | Enlarged liver, spleen, skeletal deformities, coarse facial features, large tongue, hearing loss, corneal clouding, heart disease, mental retardation, and death. |
