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Summary
ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY OTC DEFICIENCY
311250
OMIM = Online Medalian Inheritance of Men
664
Xp11.4
  • arginine-HCl
  • citrulline
  • hemofiltration/hemodialysis/peritonealdialysis
  • liver transplantation
  • low-protein diet
  • sodium benzoate
  • sodium phenylbutyrate
rare (1:40000 - 1:80000)
X-linked recessive
2 types:
- lethal neonatal
- less severe, late onset
In female patients with OTCD, metabolic crises can be easily provoked by non-predictable common disorders, such as genetic (private mutations and Lyonisation), crisis after parturition in patients with OTCD and external factors, and sometimes may be fatal [Kido et al. 2017]
symptoms
ataxia
behavior, abnormal or bizarre, confusion
cerebral edema
coma
developmental delay
encephalopathy
episodic course (clinical symptoms)
failure to thrive
feeding difficulties, poor feeding
headache (severe, recurrent or occipital, migraine)
hyperammonemia
hyperemesis gravidarum
hypothermia
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement or dysfunction
mental retardation
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
previous deaths
respiratory alkalosis
seizures
sex: male > female
spastic diplegia/quadriplegia/tetraplegia
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
temperature instability
vomiting
white matter changes, abnormalities
laboratory finding
Orotic acid10.001300.000.0011.00mmol/mol creatinineurine
Ammonia200.002000.0025.0080.00-Ámol/lblood
Urea1.008.005.0015.00mmol/lserum
Glutamine700.001100.00178.00886.00-Ámol/lplasma
Glycine1000.005000.00210.00743.00mmol/mol creatinineurine
L-Lysine500.005000.0010.0069.00mmol/mol creatinineurine
Uracil30.00500.002.0022.00mmol/mol creatinineurinechildhood
Citrulline0.0010.007.0050.00-Ámol/lplasmaNeonatal
Ornithine 41.00129.00decreasedplasma
MRI, brain, white matter abnormalities -
L-Pyroglutamic acid (5-Oxoproline)50.001000.00 mmol/mol creatinineurine
Ornithine30.00300.00 mmol/mol creatinineurine
Uric acid0.000.00 mmol/mol creatinineurine
Uridine5.0050.00 mmol/mol creatinineurine
Arginine0.0050.00 +€mol/lplasma
Asparagine increasedplasma
Homocitrulline5.00500.00 mmol/mol creatinineurine
Hippuric acid10.0010000.00 mmol/mol Creaurine
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