In December 1968, a widowed mother from Knoxville, Tennessee, arrived with her two sons, daughter and nephew at the University of Kentucky's pediatric clinic.
The four children were afflicted with severe intellectual impairment, presenting at the clinic with IQs of 10 or lower. The children showed normal development at birth, but during the first year of life experienced neurological deficiencies that rendered them unable to speak or walk. In the second and third years of life, the children were stricken with intense epileptic seizures.
Dr. Charlton Mabry, an original member of the Pediatric Department at the University of Kentucky, examined the four children in the hospital’s care-by-parent unit. After completing neurological examinations, Mabry, who was an assiduous record-keeper, took samples of the children’s blood and urine for further testing. He also denoted personal characteristics of each patient and family dynamics in his case reports. He took the specimens to the UK College of Medicine lab, finding elevated levels of the protein known as alkaline phosphatase (AP), a finding called hyperphosphatasia. Eighty percent of these cases were involved in bone metabolism, but Mabry’s study showed hyperphosphatasia occurring the metabolism of the liver.
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