A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease

Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. Deficiency in copper-dependent enzymes results in the unique kinky hair appearance, neurodegeneration, developmental delay, seizures, failure to thrive and other connective tissue or organ abnormalities. Other than biochemical tests, DNA-based diagnosis is now playing an important role. More than two hundred mutations in ATP7A gene were identified. Early copper supplementation can help improve neurological symptoms, but not non-neurological problems.

Source: Pediatrics and Neonatology - March 12, 2015 Category: Perinatology & Neonatology Authors: Yi-Jie Lin, Che-Sheng Ho, Chyong-Hsin Hsu, Ju-Li Lin, Chih-Kuang Chuang, Jen-Daw Tsai, Nan-Chang Chiu, Hsiang-Yu Lin, Shuan-Pei Lin Tags: Case report Source Type: research