A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis.
- Author:
Jin Seok PARK
1
;
Jeong Min LEE
;
Chang Seok KI
;
Young Eun KIM
;
Seonkyeong RHIE
;
Kyu Young CHAE
Author Information
1. Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seoul, Korea. starclusters@gmail.com
- Publication Type:Case Report
- Keywords:
Menkes Kinky Hair Syndrome;
Pyloric Stenosis;
Nitric Oxide Synthase;
Copper;
ATP7A protein
- MeSH:
Copper;
Hair;
Humans;
Intellectual Disability;
Male;
Menkes Kinky Hair Syndrome*;
Muscle, Smooth;
Nitric Oxide;
Nitric Oxide Synthase;
Pyloric Stenosis;
Pyloric Stenosis, Hypertrophic*;
Relaxation;
Seizures;
Vomiting
- From:
Journal of the Korean Child Neurology Society
2014;22(3):186-190
- CountryRepublic of Korea
- Language:English
-
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.
