Format

Send to:

Choose Destination
See comment in PubMed Commons below
Neurology. 2006 Aug 22;67(4):719-21.

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

Author information

  • 1Department of Pediatrics I, University Children's Hospital, Heidelberg, Germany. andreas.schulze@urz.uni-heidelberg.de

Abstract

Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased guanidinoacetate levels at birth. After 14-month treatment with creatine, high-dose ornithine, benzoate, and an arginine-restricted diet, the patient's development is normal and she does not present any symptoms of GAMT-D. The authors' observation indicates that early detection of GAMT-D is possible in the neonatal period, and presymptomatic treatment may prevent its manifestation.

PMID:
16924036
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk