The Journal of Pediatrics
Volume 147, Issue 6 , Pages 847-850, December 2005

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

From the Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, La Jolla, California; and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

Received 1 April 2005; received in revised form 8 June 2005; accepted 21 July 2005.

See editorial, p 728, and related article, p 851

We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.

AAT, α-1-antitrypsin, CDG, congenital disorder of glycosylation, CNS, central nervous system, CST, castanospermine, Dol-P, dolichyl-phosphate, Glc, glucose, GlcNAc, N-acetylglucosamine, HS, heparan sulfate, LLO, lipid-linked oligosaccharide, Man, mannose, PLE, protein-losing enteropathy, RT, Reverse transcription, PCR, polymerase chain reaction

To access this article, please choose from the options below

Login to an existing account or Register a new account.

  • Purchase this article for 30.00 USD (You must login/register to purchase this article)

    Online access for 24 hours. The PDF version can be downloaded as your permanent record.

  • Subscribe to this title

    Get unlimited online access to this article and all other articles in this title 24/7 for one year.

  • Claim access now

    For current subscribers with Society Membership or Account Number.

  • Visit SciVerse ScienceDirect to see if you have access via your institution.
 

 Supported by RO1 DK55615 to HHF, a postdoctoral fellowship from STINT/VR (K2004-99PK-14887-02B), Sweden, to Erik A. Eklund, and the Baylor College of Medicine Mental Retardation Research Center to Fernando Scaglia.Vibeke Westphal is currently affiliated with Novo Nordisk, A/S, DK-2760, Måløv, Denmark.

PII: S0022-3476(05)00714-6

doi:10.1016/j.jpeds.2005.07.042

The Journal of Pediatrics
Volume 147, Issue 6 , Pages 847-850, December 2005

Article Tools

* Image Usage & Resolution