Failure of human milk therapy in Menkes' kinky hair disease.

Abstract

Menkes' kinky hair disease (MKHD) and acrodermatitis enteropathica are inborn errors of metabolism that have in common the defective intestinal absorption of a trace metal, copper, and zinc, respectively. 1.2 In acrodermatitis enteropathica, the defect can be overcome and the symptoms alleviated by the administration of human milk. 3 To determine if human milk would promote intestinal absorption of copper in MKHD, human milk and supplemental copper were fed to a child with MKHD. Patient and Methods .—A 33-month-old boy with previously documented MKHD, 4 was admitted for study after informed written consent from his parents and with the approval of the Human Research Review Committee. Human milk, obtained from healthy volunteers, was separated into 90-mL aliquots in sterile containers and frozen until use. All blood specimens for trace metal analysis were collected in specially washed glassware. Copper and ceruloplasmin were measured by previously described methods. 4 Daily dietary copper