Muhammad Saeed, Sajjad Naseer, Qamar Ali, Muhammad Akbar Malik, Muhammad Ashraf Sultan, Zulifqar Ali Junejo.
Menkes disease (kinky hair syndrome).
Pak Paed J Jan ;36(3):167-70.

Menkes disease (MD) is a rare X-linked neurodegenerative disorder. It is caused by a mutation in the ATPTA gene, which codes for the copper transporting ATPase in the cell organelles. We report a boy who presented with recurrent seizures and progressive developmental disorder. This case had typical clinical and radiological features and proven biochemically.

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