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Summary
CITRULLINEMIA TYPE I
ARGININOSUCCINATE SYNTHETASE DEFICIENCY CITRULLINURIA CITRULLINEMIA ASS
215700
OMIM = Online Medalian Inheritance of Men
187
9q34.11
  • arginine-HCl
  • glucose infusion (acute)
  • hemofiltration/hemodialysis/peritonealdialysis
  • low-protein diet
  • sodium benzoate
  • sodium phenylbutyrate
rare (1:70000 - 1:100000)
autosomal recessive
symptoms
Amino acids, plasma
Amino acids, urine
coma
early death
feeding difficulties, poor feeding
hyperammonemia
hypothermia
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
onset, adult
onset, newborn
Organic acids, urine
seizures
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Citrulline1000.005000.0010.0045.00-Ámol/lplasma
Glycine100.001000.00232.00740.00-Ámol/lplasma
Ammonia200.002000.0025.0080.00-Ámol/lblood
Glycine1000.005000.000.00950.00mmol/mol creatinineurine
Transaminases30.002000.0010.0030.00U/lserum
Citrulline0.000.000.0011.00increasedurinenewborn
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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Daum RSet al.A new disorder of isoleucin catabolismLancet II001289-12901971
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Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Yalin CTet al.Case report: Rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newbornTani Girisim Radyol91100-1032003
Shevchenko AIKolesnikova IF, Zasypko OSFormation of chondrosarcoma in a patient with exostosis chondrodysplasiaKlin Khir1062-632004
Rosenblatt DSInherited disorders of folate transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203111-31281995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Murray KFet al.Neonatal hemochromatosisPediatrics1080960-9642001
Laurell CBEriksson SThe electrophoretic alpha1-globulin pattern of serum in alpha1-antitrypsin deficiencyScand J Clin Lab Invest150132-1401963
Chambliss KLet al.Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidneyJ Inherit Metab Dis160523-5261993
Swarna Met al.Amino acid disorders in mental retardation: a two-decade study from Andhra PradeshBiochem Genet42085-962004