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Summary
CITRULLINEMIA TYPE II, ADULT-ONSET
CITRULLINEMIA, ADULT-ONSET TYPE II CTLN2
603471
OMIM = Online Medalian Inheritance of Men
247585
7q21.3
  • arginine-HCl
  • liver transplantation
  • sodium pyruvate
rare (1:21000 Japan)
autosomal recessive
mutation in the ASS1 gene
symptoms
behavior, abnormal or bizarre, confusion
behavior, hyperactive, restless
coma
diarrhea
encephalopathy
enuresis nocturna
hyperammonemia
lethargy, drowsiness, malaise or sleep disorder
liver involvement (acute, chronic, hepatitis)
liver, fatty
onset, adolescent
onset, adulthood
psychosis
seizures
sweating
tremor or twitching
vomiting
laboratory finding
Citrulline increasedplasma
MRI, brain, abnormalities -
Ammonia increasedblood
Argininosuccinate0.000.00 increasedurineno data
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