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 |
|a- L- iduronidase||Enlarged liver, spleen, skeletal deformities, coarse facial features, large tongue, hearing loss, corneal clouding, heart disease, mental retardation, and death.|
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