1 School of Medicine, University of California Center for the Health Sciences, Los Angeles, California
2 School of Public Health, University of California Center for the Health Sciences, Los Angeles, California
THE geographic and racial distributions of phenylketonuria have been recorded in the literature for many years, beginning with Jervis in 1939. It has been reported to occur in the Scandinavian countries, Ireland, England the European continent, North and South America, and Japan. Racially it has apparently been recorded equally among all groups with the exception of Jews and Negroes, in whom its incidence is much lower. After a review of the literature, however, only three papers presented the possibility of phenylketonuria occurring in the American Indian or related racial groups (e.g., Mexican). These are summarized in Table I.
A study of the following family has therefore proven to be significant.
FAMILY HISTORY
Mr. Y, age 30, and Mrs. Y, age 20, were born and raised in a Cheyenne-Arapaho Indian community in Oklahoma. Both are in good health and are of normal intelligence. Mrs. Y has had four pregnancies; the first resulted in a spontaneous abortion at 2 months, but the next three were viable. These three children with their clinical status are, in order of birth: Je, diagnosed as phenylketonuric with mental retardation; Su, normal; and Ch, diagnosed as phenylketonuric.
Case 1
Je, age 3
years, was born in the Oklahoma Indian community; he weighed 3,300 gm at birth; pregnancy and delivery were normal. He has no history of eczema or seizures, conditions frequently associated with phenylketonuria. Development has been as follows: held head at 4 months, sat with support at 5 months, sat without support at 8 months, smiled at 9 months, rolled over at 10 months.