TY - CHAP M1 - Book, Section TI - Chapter 573. Neurologic Aspects of Disorders of Metal Metabolism A1 - Mellado, Cecilia A1 - Sahin, Mustafa A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. Y1 - 2011 N1 - T2 - Rudolph's Pediatrics, 22e AB - Menkes disease (MD) and occipital horn syndrome (OHS) are X-linked recessive disorders that affect young infants. They are caused by a defect in copper transportation across the intestinal mucosa, resulting in a copper deficiency and dysfunction of copper-dependent enzymes. The incidence is estimated at 1 in 50,000 to 1 in 250,000 live births; one third of cases result from new mutations. MD usually affects males; however, a few affected females with unfavorable X-lyonization or X chromosome anomalies have been reported. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/19 UR - accesspediatrics.mhmedical.com/content.aspx?aid=7059106 ER -