Causes Gunther disease



gunther disease has autosomal recessive pattern of inheritance.


gunther disease caused mutations in gene encodes enzyme uroporphyrinogen iii synthase (uros), located @ human chromosome 10q25.2-q26.3. disorder inherited in autosomal recessive manner. means defective gene responsible disorder , located on autosome, , 2 copies of defective gene (one inherited each parent) required in order born disorder. parents of individual autosomal recessive disorder both carry 1 copy of defective gene, not experience signs or symptoms of disorder. when there homozygous mutation causes uroporphyrinogen iii synthase , uroporphyrinogen cosynthase defect. when enzyme uroporphyrinogen iii synthase reacting results in making of isomer iii porphyrinogen, used form heme. when isomer iii porphyrinogen not produced because of poor production of uroporphyrinogen iii synthase isomer porphyrinogen made oxidize , give reddish tint skin.








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