RT Journal
A1 WILLIAMS DM, ATKIN CL, SEAY AR, BRAY PF
T1 FAilure of human milk therapy in menkes' kinky hair disease
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1979
FD February 1
VO 133
IS 2
SP 218
OP 219
DO 10.1001/archpedi.1979.02130020110024
UL http://dx.doi.org/10.1001/archpedi.1979.02130020110024
AB 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.4Daily dietary copper