Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: Identification of novel missense mutations [2]

Journal of Gastroenterology

Volumn 40, Issue 1, 2005, Pages 106-107

  Tanaka, Atsushi ^a,b   Wada, Tadashi ^a   Maruyama, Masataka ^a   Takikawa, Hajime ^b   Komatsu, Yasuhiro ^a  

^a ST LUKE'S INTERNATIONAL HOSPITAL   (Japan)

^b TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CARBAMOYL PHOSPHATE; CITRULLINE; GLYCINE; ORNITHINE; ORNITHINE DECARBOXYLASE; SERINE;

ADULT; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; CODON; CONSCIOUSNESS DISORDER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FEVER; GENE AMPLIFICATION; HUMAN; HYPERAMMONEMIA; LETTER; LIVER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; UPPER RESPIRATORY TRACT INFECTION; UREA CYCLE;

ADULT; BRAIN DISEASES, METABOLIC; CODON; EXONS; FEMALE; HUMANS; HYPERAMMONEMIA; MUTATION, MISSENSE; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; SEQUENCE ANALYSIS, DNA;

EID: 20444422558     PISSN: 09441174     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00535-004-1502-y     Document Type: Letter

References (3)

1. Matsuura T, Hoshide R, Setoyama C, Shimada K, Hase Y, Yanagawa T, et al. For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: Application of PCR-single-strand confirmation polymorphisms for all exons and adjacent introns. Hum Genet 1993;92:49-56.
2. Horwich A, Kalousek F, Fenton W, Furtak K, Pollock R, Rosenberg L. The ornithine transcarbamylase leader peptide directs mitochondrial import through both its midportion structure and net positive charge. J Cell Biol 1987;105:669-77.
3. Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch M. Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 2002;19:93-107.