Case Report
Year: 2016 | Month: November | Volume: 6 | Issue: 11 | Pages: 291-294
HHH Syndrome: A Case Report and Review of Literature
Dipankar Mondal1, Sreekanth R Shenoy1, Debasish Panigrahi1, Bhupendra Kumar Gupta1, Leena Das2, Kumar Satapathy3
1Junior Resident, 2Associate Professor, 3Professor and Head of the Department,
Department of Pediatrics SVPPGIP and SCB Medical College and Hospital, Cuttack, Odisha-753002, India
Corresponding Author: Dipankar Mondal
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.