Significados de menkes disease em inglês

Mutations in ATP7A can lead to the usually lethal Menkes disease.

Menkes disease is a very rare X-linked copper metabolism disorder that results from an ATP7A gene mutation.

Rapid diagnosis of Menkes disease and early start of copper therapy is critical for the effectiveness of treatment.

With the advent of subcutaneous copper-histidine therapy, the early diagnosis of Menkes disease becomes of utmost importance for patients' prognosis.

Menkes disease is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency.

Molecular analysis of the ATOX1 gene as a possible modulating factor of Menkes disease did not reveal presence of pathogenic mutations.

Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase.

Conclusion: Menkes disease and KdV syndrome may both present with hypotonia and abnormal hair, in addition to seizures and failure to thrive.