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Nutrigenomique et épigénétique

Wilson Disease

Genetic disorder of copper accumulation requiring strict nutritional management.

Definition

Rare genetic disorder characterized by copper accumulation in organs due to a mutation in the ATP7B gene affecting copper transport and elimination.

How it works

Wilson disease is an autosomal recessive inherited condition that alters the liver's ability to eliminate excess copper. Copper accumulates progressively in the liver, brain, and eyes, causing neurological and hepatic symptoms. Nutritional management involves restricting copper-rich foods and using chelators. Early detection and treatment can prevent severe complications. Nutrition plays a crucial role in controlling copper accumulation.

Role

Genetic management of copper metabolism affecting gene expression involved in mineral homeostasis.

Examples

  • Limiting dried fruits
  • Avoiding crustaceans
  • Restricting chocolate
  • Controlling nuts

Recommendations

Consult a hepatologist-nutritionist to establish a low-copper diet tailored to individual needs. Maintain adequate hydration to facilitate renal elimination. Perform regular serum and urinary copper dosages to evaluate treatment effectiveness.

Key takeaway

Nutritional management of Wilson disease relies on systematic copper restriction in the diet to prevent organ damage.

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