0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Article |

Atypical Phenylketonuria With Borderline or Normal Intelligence

David Yi-Yung Hsia, MD; Margaret E. O'Flynn, MB, ChB, DCH; Julian L. Berman, MD
Am J Dis Child. 1968;116(2):143-157. doi:10.1001/archpedi.1968.02100020145005.
Text Size: A A A
Published online

PHENYLKETONURIA is a hereditary metabolic disorder characterized by an elevation of plasma phenylalanine and the excretion of phenylpyruvic acid in the urine. In the past, it was believed that nearly all patients afflicted with this disorder were mentally retarded. In a survey covering all published cases, Jervis1 found that only three out of 330 phenylketonuric children (0.9%) had an intelligence quotient above 70. In 1960, Knox2 reported that there were 20 known untreated patients with phenylketonuria having "high grade" intelligence. Of these, eight patients had IQs between 60 and 69; six patients had IQs between 70 and 79; three patients had IQs between 80 and 89; and three patients had IQs over 90. More recently, Knox3 has expressed the view that no single factor can account for the relatively mild intellectual defect in these "atypical" phenylketonuric children. He believes that some of these have a biochemical defect

Topics

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

First Page Preview

View Large
First page PDF preview

First Page Preview

View Large
First page PDF preview

Figures

Tables

References

Correspondence

CME
Also 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.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
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.
Submit a Comment

Multimedia

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

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

Related Content

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

Jobs
brightcove.createExperiences();