We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
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 |

Inborn Terror of Metabolism

JAMA. 1970;214(12):2186-2187. doi:10.1001/jama.1970.03180120058012.
Text Size: A A A
Published online


Had Sir Archibald Garrod discovered (1902) not the relatively benign alkaptonuria but the demonic X-linked uric aciduria (Lesch-Nyhan syndrome), he might have christened inborn disorders of metabolism "terrors" rather than "errors." No more terrifying sight can be imagined than that of a mentally retarded choreoathetotic, spastic, selfmutilated child with bitten-off digits and lips. First described in 1964, and since reported in about 150 cases, the Lesch-Nyhan syndrome still remains a therapeutic challenge, despite its known mode of transmission and its well-defined underlying enzymatic defect. Perpetuated as a sexlinked recessive trait, and characterized by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which results in excessive purine synthesis, the disease leads to early death before the age of puberty. Treatment with adenine and folic acid has failed to cure or improve the severe neurologic symptoms.

In the absence of cure or palliation, the alternative to therapeutic inaction is early termination of pregnancy, if


Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?




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.


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

0 Citations

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

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