What genetic condition is characterized by an autosomal recessive deficiency of zinc?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

The genetic condition characterized by an autosomal recessive deficiency of zinc is acrodermatitis enteropathica. This condition results from a mutation in the SLC39A4 gene, which encodes a transporter responsible for zinc absorption in the intestine. When this transporter is dysfunctional, zinc cannot be adequately absorbed, leading to zinc deficiency.

Patients with acrodermatitis enteropathica typically present with symptoms like dermatitis, diarrhea, and growth retardation, particularly in infants after weaning from breast milk, which is rich in zinc. The skin lesions are commonly located around the mouth, diaper area, and other flexural surfaces. Supplementation with zinc can dramatically improve symptoms and promote healing.

The other conditions listed are not related to zinc deficiency. Cystic fibrosis primarily affects the respiratory and digestive systems due to mutations in the CFTR gene, leading to thick mucus production. Hemochromatosis is associated with iron overload due to mutations in genes related to iron metabolism. Wilson's disease involves copper accumulation because of defective copper transport and metabolism. Understanding the specific metabolic pathways and genetic mutations associated with each condition is crucial for differentiating between these disorders.

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