Home    eJManager.com Add Your Journal   |    Follow on Twitter   |    Subscribe to List

Directory for Medical Articles
 

Open Access

Case Report

IJHSR. 2016; 6(11): 291-294


HHH Syndrome: A Case Report and Review of Literature.

Dipankar Mondal, Sreekanth R Shenoy, Debasish Panigrahi, Bhupendra Kumar Gupta, Leena Das, Kumar Satapathy.

Abstract
HHH Syndrome is a rare autosomal recessive disorder of urea cycle. Diagnosis is done by variable clinical presentation and biochemical triad of hyperammonemia, hyperornithinemia and homocitrullinuria. We report a day 3 neonate presented with lethargy, poor feeding, hypotonia, diagnosed by plasma ammonia and amino acid analysis by mass spectrometry.

Key words: HHH Syndrome, Hyperammonemia, Hyperornithinemia, Homocitrullinuria.



Share this Article




ScopeMed Home
Follow ScopeMed on Twitter
Article Tools
Job Opportunities/Service Offers
eJManager OJMS
eJPort Journal Hosting
About ScopeMed
Terms & Conditions
Privacy Policy
Suggest a Journal
Publisher Login
Contact Us

The articles in Scopemed are open access articles licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
ScopeMed is a Service of eJManager LLC Publishing for Scientific Publications. Copyright © ScopeMedź Information Services.
Scopemed Buttons