RT Book, Section 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. SR Print(0) ID 7059106 T1 Chapter 573. Neurologic Aspects of Disorders of Metal Metabolism T2 Rudolph's Pediatrics, 22e YR 2011 FD 2011 PB The McGraw-Hill Companies PP New York, NY SN 978-0-07-149723-7 LK accesspediatrics.mhmedical.com/content.aspx?aid=7059106 RD 2024/03/29 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.