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Summary
CITRULLINEMIA TYPE I
ARGININOSUCCINATE SYNTHETASE DEFICIENCY ASS DEFICIENCY
215700
OMIM = Online Medalian Inheritance of Men
247525
9q34.11
  • arginine-HCl
  • glucose infusion (acute)
  • hemofiltration/hemodialysis/peritonealdialysis
  • low-protein diet
  • sodium benzoate
  • sodium phenylbutyrate
rare (1:70000 - 1:100000)
autosomal recessive
mutation in the ASS1 gene
symptoms
Amino acids, plasma
Amino acids, urine
coma
developmental delay
early death
feeding difficulties, poor feeding
fever
hyperammonemia
hypothermia
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
liver failure
mental retardation
onset, adulthood
onset, neonatal
Organic acids, urine
seizures
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Citrulline1000.005000.007.0050.00-Ámol/lplasma
Glycine100.001000.00230.00450.00-Ámol/lplasma
Ammonia200.002000.0025.0080.00-Ámol/lblood
Glycine1000.005000.00210.00743.00mmol/mol creatinineurine
Transaminases30.002000.0010.0030.00U/lserum
Citrulline0.000.000.009.00increasedurinenewborn
Orotic acid300.00800.000.0011.00mmol/mol creatinineurine
Argininosuccinate synthetase 100.00decreased activityliver
CT, brain, abnormalities -
Uric acid0.000.00 normal-increasedurineno data
N-Acetylcitrulline0.000.00 increasedurineno data
Orotidine0.000.00 normal-increasedurineno data
Literature
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