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Summary
CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS)
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY
237300
OMIM = Online Medalian Inheritance of Men
147
2q35
  • amino acid mixture
  • arginine-HCl
  • citrulline
  • glucose infusion (acute)
  • hemofiltration/hemodialysis/peritonealdialysis
  • liver transplantation
  • low-protein diet
  • sodium benzoate
  • sodium phenylbutyrate
rare (1:70000 - 1:100000)
autosomal recessive
Two forms of CPS1D are recognized:
- lethal neonatal type
- less severe, delayed onset type
symptoms
ataxia
cerebral edema
coma
failure to thrive
feeding difficulties, poor feeding
growth retardation
hyperammonemia
hypothermia
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
onset, adolescent
onset, adult
onset, infant
onset, newborn
seizures
spastic diplegia/quadriplegia
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Ammonia200.004000.0025.0080.00-Ámol/lblood
Glutamine700.001100.00376.00709.00-Ámol/lplasma
Glycine1000.005000.000.00950.00mmol/mol creatinineurine
Lysine500.005000.0010.0069.00mmol/mol creatinineurine
Uracil30.00500.002.0022.00mmol/mol creatinineurine
Carbamylphosphate synthetase 100.00decreased activityliver
Urea nitrogen 1.806.40decreasedserum
5-Oxoproline0.000.00 increasedurineno data
Citrulline 10.0045.00decreasedplasma
Suberic acid76.00168.00 mmol/mol creatinineurineno data
Arginine0.000.00 decreasedplasma
Orotic acid0.000.00 decreasedurine
Literature
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Usmani ASCavaliere T, Casatelli J, Harper RGPlasma ammonia levels in very low birth weight preterm infantsJ Pediatr1230797-7991993
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Ogier de Baulny HOet al.Methylmalonic and propionic acidaemias: management and outcomeJ Inherit Metab Dis283415-4232005
Usmani ASCavaliere T, Casatelli J, Harper RGPlasma ammonia levels in very low birth weight preterm infantsJ Pediatr1230797-7991993
Orii KEet al.Formation of the enzyme complex in mitochondria is required for function of trifunctional beta-oxidation proteinBiochem Biophys Res Commun2190773-7771996
Usmani ASCavaliere T, Casatelli J, Harper RGPlasma ammonia levels in very low birth weight preterm infantsJ Pediatr1230797-7991993