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Research progress in Menkes disease / 国际儿科学杂志
International Journal of Pediatrics ; (6): 427-430, 2019.
Article in Chinese | WPRIM | ID: wpr-751484
ABSTRACT
Menkes Disease (MD) is a multisystemic disorder of impaired copper metabolism with an X-linked recessive inheritance,which is caused by defects in ATP7A gene encoding a copper-transporting AT-Pase.It is characterized by infantile onset,peculiar curls and facial changes,mental retardation with progressive neurodegeneration,as well as hypotonia and connective tissue abnormalities.Many intermediate phenotypes have been found in recent years,the mildest form of which is occipital horn syndrome (OHS).Its clinical variants show a broad spectrum from chromosome abnormalities to single-nucleotide mutation.Early copper-histidine supplementation is still the most crucial treatment at present,and L-DOPS combination therapy may benefit some patients clinically.This article reviews the pathogenesis,clinical features and the progress of diagnosis and treatment of MD.

Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: International Journal of Pediatrics Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: International Journal of Pediatrics Year: 2019 Type: Article