A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene [2]

Journal of Gastroenterology

Volumn 39, Issue 11, 2004, Pages 1115-1117

  Ito, Shun ^a,e   Kurasawa, Gotaro ^a   Yamamoto, Kyoko ^a   Furuta, Izumi ^a   Ishihara, Fumitake ^a   Kobayashi, Keiko ^b   Saheki, Takeyori ^b   Matsuura, Tomokazu ^c   Yamauchi, Masayoshi ^c   Kakinoki, Hiroshige ^d  

^a Kanagawa Prefectural Atsugi Hospital   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d Kakinoki Hospital   (Japan)

^e Tsukui Red Cross Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; ARGININOSUCCINATE SYNTHASE; CITRULLINE; GENOMIC DNA; GLYCINE; MESSENGER RNA;

ADULT; AUTOPSY; BOLIVIA; BRAIN ATROPHY; CASE REPORT; CITRULLINEMIA; CLINICAL FEATURE; DEATH; DNA DETERMINATION; ELECTROENCEPHALOGRAM; EXON; FEMALE; HETEROZYGOTE; HOSPITAL ADMISSION; HUMAN; LETTER; LIVER FAILURE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PLASMAPHERESIS; PREGNANCY; PRIORITY JOURNAL; PROTEIN RESTRICTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

ADULT; ARGININOSUCCINATE SYNTHASE; CITRULLINEMIA; FEMALE; HUMANS; LIVER; LIVER FAILURE, ACUTE; MUTATION, MISSENSE; PREGNANCY; PREGNANCY COMPLICATIONS;

EID: 10244264873     PISSN: 09441174     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00535-004-1455-1     Document Type: Letter

References (2)

1. Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Saheki T, et al. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Hum Mutat 2003;22:24-34.
2. Kurasawa G, Shiotsuka S, Nakajo J, Ohishi M, Aida T, Tanaka T, et al. A case report of citrullinemia induced by pregnancy (in Japanese). Kanto J Obstet Gynecol 1998;35:3-7.