RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164072961
T1 HHH Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164072961
RD 2024/04/16
AB HHH  is  an  acronym  that  stands  for  Hyperornithinemia-Hyperammonemia-Homocitrullinuria.  Homocitrullinuria  is  a  key  feature  of  the  HHH  Syndrome.  It  is  a  genetically  transmitted  inborn  error  of  metabolism  caused  by  a  defect  in  the  transport  of  ornithine  into  the  mitochondrial  matrix  characterized  clinically  by  early  growth  retardation,  learning  disabilities,  periodic  confusion,  and  ataxia.