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Summary
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA (HHH-SYNDROME)
ORNITHINE TRANSLOCASE DEFICIENCY
238970
OMIM = Online Medalian Inheritance of Men
415
13q14.11
  • arginine-HCl
  • citrulline
  • low-protein diet
  • ornithine
rare
autosomal recessive
symptoms
ataxia
behavior, hyperactive, restless
coma
developmental delay
failure to thrive
feeding difficulties, poor feeding
growth retardation
hepatomegaly (large liver)
hyperammonemia
hypothermia
hypotonia
lens opacities
lethargy, drowsiness, malaise or sleep disorder
liver involvement or dysfunction
mental retardation
night blindness
onset, childhood
onset, neonatal
paraparesis/paraplegia
seizures
spastic diplegia/quadriplegia
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Ornithine70.002500.000.0013.00mmol/mol creatinineurine
Homocitrulline200.001200.003.8013.80mmol/mol creatinineurineadult
Orotic acid30.00500.000.0011.00mmol/mol creatinineurine
Ornithine380.00630.0041.00129.00-Ámol/lplasma
Ammonia150.00350.0025.0080.00-Ámol/lblood
L-Glutamine700.001100.00178.00886.00-Ámol/lplasma
L-Lysine200.001000.0010.0069.00mmol/mol creatinineurine
Urea1.008.005.0015.00mmol/lserum
2-Aminopiperid-2-one 0.000.00increasedurine
bleeding time 3.005.00prolongedblood
Coagulopathy/Coagulation factors abnormalplasma
Citrulline0.000.00 increased under treatmenturineno data
Literature
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