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 ......
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address 107.21.67.191. Please contact the publisher to request reinstatement.
ARTICLE |

Screening

Barbara A. Carlson, MLS; William B. Pittard III, MD
JAMA. 1994;272(13):1078-1079. doi:10.1001/jama.1994.03520130120048.
Text Size: A A A
Published online

What are inborn errors of metabolism, and can newborn infants with these disorders be identified and treated with a favorable outcome? Only three decades ago these were common questions asked by the medical community. Today the basic answers are vaguely familiar even to the layperson.

Screening newborn infants and identifying those with inherited metabolic disorders require a team approach by physician and nonphysician scientists, skilled technologists, and public health workers—a process constituting "laboratory medicine on a mass scale in the public area."1 Newborn screening routinely identifies infants with metabolic disturbances such as phenylketonuria and congenital hypothyroidism. By detecting rare disorders early enough, their associated long-term complications, especially neurological deficits, can be reduced. If affected infants are identified within the first few weeks of life, their quality of life can be dramatically improved by recommended therapeutic interventions. Earlier detection of a larger number of genetic and nongenetic congenital disorders is

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

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

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();