Metabolic Defects - Other Metabolic Disorder

Dr. Reeja Tharu
Medically Reviewed by The Medindia Medical Review Team  on Nov 17, 2016
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Metabolic Defects - Other Metabolic Disorder

Nucleic acid metabolismGout 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.  

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