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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.



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