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Anaesthesia General 8204536c

Cells cultured from patients with this disorder exhibit low activity for the nucleotide excision repair process. This autosomal recessive genetic disease includes marked sensitivity to sunlight (Ultra voilet light) with subsequent formation of multiple skin cancers and premature death, the disorder is:

A
Acute intermittent Porphyria
B
Alkaptonuria
C
Xeroderma Pigmentosa
D
Ataxia - Telangiectasa
High-Yield Explanation
C i.e. Xeroderma pigmentosa Xeroderma pigmentosa is an autosomal recessive genodermal disease in which DNA repair is defective d/t defective NER (nucleotide excision & repair) pathwayQ. This results in marked hypersensitivity to ultraviolet (sun) light, photosensitivity, dry pigmented skin, increased risk of skin malignancy and premature deathQ.

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