Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: Involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

Molecular Genetics and Metabolism

Volumn 81, Issue SUPPL., 2004, Pages 20-26

  Saheki, Takeyori ^a   Kobayashi, Keiko ^a   Iijima, Mikio ^a   Horiuchi, Masahisa ^a   Begum, Laila ^a   Jalil, Md Abdul ^a   Li, Meng Xian ^a   Lu, Yao Bang ^a   Ushikai, Miharu ^a   Tabata, Ayako ^a   Moriyama, Mitsuaki ^b   Hsiao, Kwang Jen ^c   Yang, Yanling ^d  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b Osaka Prefecture University   (Japan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

^d PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Adult onset type II citrullinemia; Argininosuccinate synthetase; Aspartate glutamate carrier; Citrin; Citrullinemia; Hyperammonemia; Intrahepatic cholestasis caused by citrin deficiency; Malate aspartate shuttle; SLC25A13; Urea synthesis

Indexed keywords

ANALGESIC AGENT; ANTIINFLAMMATORY AGENT; ARGININE; ARYLBUTYRIC ACID DERIVATIVE; ASPARAGINE; ASPARTIC ACID; BENZOIC ACID; CITRIC ACID; ERIODICTYOL 7 O GLUCOSIDE; GLUTAMIC ACID; GLYCEROL; MALIC ACID; PARACETAMOL; PHENYLACETIC ACID; PROTEIN; RABEPRAZOLE; UNCLASSIFIED DRUG;

BRAIN EDEMA; CITRIN DEFICIENCY; CITRULLINEMIA; CITRULLINEMIA TYPE 2; DIET THERAPY; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; HEART; HUMAN; HYPERAMMONEMIA; INCIDENCE; KIDNEY; LIVER; LIVER TRANSPLANTATION; MUTATION RATE; NEWBORN HEPATITIS; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN FUNCTION; PROTEIN LOCALIZATION; REVIEW; SYMPTOM; UREA CYCLE;

EID: 12144289341     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.01.006     Document Type: Article

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