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Treatment of phenylketonuria
Volume 70 Number 3, part 1
Where d~ ~- number of deaths during interval between 5 years and 8 to 10 years. 1, ~ number of patients alive at 5 years. w. ~ number of patients alive at 5 years, lost to folIow-up--for reasons other than death. z~ ~ number of patients followed less than 8 to I0 years. 4 Thus q~ ~ ~ 0.039 (the mor1 3 9 - 1 5 - ~ (42) talky fraction for the interval between 5 years and 8 to 10 years ) And for these 57 children, two deaths might be anticipated (57 x 0.039 = 2.2). When added to the observed number of deaths, 28, a projected cumulative mortality of 30 is obtained (I8.5 per cent of the total group of 163 children). The 55 survivors are divided
Letters to the editor
4 55
proportionately among groups I to V on the basis of the observed distribution at 8 to 10 years. This study was made possible by the accessibility of the records of the late Dr. Milton Rapoport and Dr. Wallace McCrory who supervised the care of all of these children. DAVID CORNFELD~ M.D. ~,
WILLIAM
CHILDREN"S
SCHWARTZ~ M.D.
HOSPITAL
1740 BAINBRIDGE PHILADELPHIA~ PA.
REFERENCES 1. Riley, C., Davis, R. A,, Fertig, J. W., and Berger, A. P.: Nephrosis of childhood: Statistical evaluation of the effect of adrenocorticalactive therapy, J. Chron. Dis. 3: 640, 1956. 2. Cornfeld, D., and Schwartz, D. M.: Nephrosis: A long term study of children treated with corticosteroids, J PEDIAT. 68: 507, 1966.
Treatment o/ phenylketonuria
To the Editor: Dr. Bessman has written a blunt evaluation of the information presently available pertaining to the treatment of phenylketonuria ( P K U ) (J. PEmAT. 69: 334, 1966). Leaving aside some arguable statements and the thorny legislative problems he mentioned, his commentary illustrates the very real need for more information to guide us in the care of these patients. He and others can help supply this. No one clinic sees a large enough number of these relatively rare patients to answer the major questions decisively within a few years. For this reason, the initial assessment of the low phenylalanine diet was made on reports of 43 patients compiled from many clinics here and abroad (Knox, W. E., Pediatrics 26- 1, 1960). The resuits indicated that the treatment in patients under 3 years of age significantly reduced the incidence of seizures and abnormal EEG's and improved their mental development, in comparison to the results of classical, untreated, institutionalized patients. The effects in individual patients were often clear cut, but the heterogeneity of the sample, its small size, and the frequent lack of critical informat/on precluded a more detailed evaluation.
At this time, no more than twice the original sample of P K U patients are u n d e r treatment in any one center, but an estimated total of 600 are being treated throughout the country. This larger number has presumably been handled in a relatively standardized manner. It is possible that analysis of the cumulative data can answer some of the uncertainties expressed by Dr. Bessman, as well as guide future policies in research, treatment, and legislation. For this reason, most investigators are filling out standardized reports this year on each of their patients, whether treated, untreated, or atypical. This study is supported by the Chip dren's Bureau. The data accumulated so far are being analyzed. Those who have patients, but have not been solicited for this information, are urged to communicate with the undersigned. Those who have not yet returned their forms are urged to do so promptly. W. EUGENE KNOX~ M.D. DEPARTMENT OF BIOLOGICAL CHEMISTRY HARVARD MEDICAL SCHOOL T H E CANCER RESEARCH I N S T I T U T E N E W ENGLAND DEACONESS HOSPITAL BOSTON~ MASS,
Where d~ ~- number of deaths during interval between 5 years and 8 to 10 years. 1, ~ number of patients alive at 5 years. w. ~ number of patients alive at 5 years, lost to folIow-up--for reasons other than death. z~ ~ number of patients followed less than 8 to I0 years. 4 Thus q~ ~ ~ 0.039 (the mor1 3 9 - 1 5 - ~ (42) talky fraction for the interval between 5 years and 8 to 10 years ) And for these 57 children, two deaths might be anticipated (57 x 0.039 = 2.2). When added to the observed number of deaths, 28, a projected cumulative mortality of 30 is obtained (I8.5 per cent of the total group of 163 children). The 55 survivors are divided
Letters to the editor
4 55
proportionately among groups I to V on the basis of the observed distribution at 8 to 10 years. This study was made possible by the accessibility of the records of the late Dr. Milton Rapoport and Dr. Wallace McCrory who supervised the care of all of these children. DAVID CORNFELD~ M.D. ~,
WILLIAM
CHILDREN"S
SCHWARTZ~ M.D.
HOSPITAL
1740 BAINBRIDGE PHILADELPHIA~ PA.
REFERENCES 1. Riley, C., Davis, R. A,, Fertig, J. W., and Berger, A. P.: Nephrosis of childhood: Statistical evaluation of the effect of adrenocorticalactive therapy, J. Chron. Dis. 3: 640, 1956. 2. Cornfeld, D., and Schwartz, D. M.: Nephrosis: A long term study of children treated with corticosteroids, J PEDIAT. 68: 507, 1966.
Treatment o/ phenylketonuria
To the Editor: Dr. Bessman has written a blunt evaluation of the information presently available pertaining to the treatment of phenylketonuria ( P K U ) (J. PEmAT. 69: 334, 1966). Leaving aside some arguable statements and the thorny legislative problems he mentioned, his commentary illustrates the very real need for more information to guide us in the care of these patients. He and others can help supply this. No one clinic sees a large enough number of these relatively rare patients to answer the major questions decisively within a few years. For this reason, the initial assessment of the low phenylalanine diet was made on reports of 43 patients compiled from many clinics here and abroad (Knox, W. E., Pediatrics 26- 1, 1960). The resuits indicated that the treatment in patients under 3 years of age significantly reduced the incidence of seizures and abnormal EEG's and improved their mental development, in comparison to the results of classical, untreated, institutionalized patients. The effects in individual patients were often clear cut, but the heterogeneity of the sample, its small size, and the frequent lack of critical informat/on precluded a more detailed evaluation.
At this time, no more than twice the original sample of P K U patients are u n d e r treatment in any one center, but an estimated total of 600 are being treated throughout the country. This larger number has presumably been handled in a relatively standardized manner. It is possible that analysis of the cumulative data can answer some of the uncertainties expressed by Dr. Bessman, as well as guide future policies in research, treatment, and legislation. For this reason, most investigators are filling out standardized reports this year on each of their patients, whether treated, untreated, or atypical. This study is supported by the Chip dren's Bureau. The data accumulated so far are being analyzed. Those who have patients, but have not been solicited for this information, are urged to communicate with the undersigned. Those who have not yet returned their forms are urged to do so promptly. W. EUGENE KNOX~ M.D. DEPARTMENT OF BIOLOGICAL CHEMISTRY HARVARD MEDICAL SCHOOL T H E CANCER RESEARCH I N S T I T U T E N E W ENGLAND DEACONESS HOSPITAL BOSTON~ MASS,