Neonatal Diagnosis and Treatment of Menkes Disease

Abstract

Infants diagnosed with Menkes disease early by plasma neurochemical methods and treated early, within 22 days after birth, with copper replacement therapy, had a 92% survival rate vs 13% in those treated late, Median follow-up in 12 newborns treated early was 4.6 years compared to 1.8 years in 15 diagnosed and treated late.

Keywords

• neonatal
• menkes disease
• infantile neurodegenerative disease