0
ARTICLE |

Detection of Phenylketonuria in Newborn Infants

Helen K. Berry, MA; Betty S. Sutherland, MD; Barbara Umbarger, MA
JAMA. 1966;198(10):1114-1115. doi:10.1001/jama.1966.03110230130031.
Text Size: A A A
Published online

The purpose of screening infants for the presence of phenylketonuria is to permit early treatment and thus reduce the risk of mental retardation associated with this disease. It has been assumed that the chief problem lay in detection of this rare disorder, and the difficulties and hazards of treatment have not been emphasized. Death as a result of overtreatment of phenylketonuria has occurred. Growth failure, anemia, and rachitic bone changes are also described in treated children, presumably the result of phenylalanine deficiency. Mild to moderate mental retardation has been reported in infants who were treated by severe restriction of phenylalanine intake in spite of early detection of the disease.

It should be recognized that the detection of phenylketonuria in an infant is but the first step in a long-term treatment program if mental retardation is to be prevented. The most critical period of treatment comes during the first six months

Topics

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

Figures

Tables

References

CME
Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

Jobs
brightcove.createExperiences();