J Korean Child Neurol Soc.
2014 Sep;22(3):186-190.
A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis
- Affiliations
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- 1Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seoul, Korea. starclusters@gmail.com
- 2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Abstract
- Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual disability. Reduced nitric oxide (NO) production contributes to infantile hypertrophic pyloric stenosis (IHPS) because NO plays an important role in smooth muscle relaxation. Here we describe a case of Menkes disease and IHPS in a 72-day-old male patient with severe persistent vomiting and convulsions with a novel ATP7A mutation.
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