A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age

Brain and Development

Volumn 31, Issue 10, 2009, Pages 779-781

  Ono, Hiroaki ^a   Suto, Tetsushi ^a   Kinoshita, Yoshihisa ^a   Sakano, Takashi ^a   Furue, Takeki ^a   Ohta, Toshiyuki ^a  

^a HIROSHIMA PREFECTURAL HOSPITAL   (Japan)

Author keywords

Carbamoyl phosphate synthase 1 deficiency; Hyperammonemia; Infant

Indexed keywords

ARGININE; BENZOIC ACID; CARBAMOYL PHOSPHATE SYNTHASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD DEVELOPMENT; CONTINUOUS HEMODIALYSIS; DISEASE CLASSIFICATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EXON; FOLLOW UP; HETEROZYGOSITY; HUMAN; HYPERAMMONEMIA; INFANT; MALE; ONSET AGE; PROTEIN RESTRICTION; SYMPTOM; TREATMENT RESPONSE; UREA CYCLE; WEIGHT GAIN;

CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; DNA MUTATIONAL ANALYSIS; GENES, RECESSIVE; HUMANS; INFANT; MALE; MUTATION;

EID: 70350169102     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2008.12.013     Document Type: Article

References (6)

1. Granot E., Matoth I., Lotan C., Shvil Y., Lijovetzky G., Yatziv S., et al. Partial carbamyl phosphate synthetase deficiency, simulating Reye, s syndrome, in a 9-year-old girl. Israel J Med Sci 22 (1986) 463-465
2. Kurokawa K., Yorifuji T., Kawai M., Momoi T., Nagasaka H., Takayanagi M., et al. Molecular and clinical analyses of Japanese patients with carbamoyl phosphate synthetase 1 (CPS1) deficiency. J Hum Genet 52 (2007) 349-354
3. Verbiest H.B.C., Straver J.S., Colombo J.P., and van der Vijver J.C.M. Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma. Acta Neurol Scand 86 (1992) 275-279
4. Wong L.J.C., Craigen W.J., and O' Brien W.E. Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency. Ann Intern Med 120 (1994) 216-217
5. Rapp B., Häberle J., Linnebank M., Wermuth B., Thorsten M., Harms E., et al. Genetic analysis of carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency using fibroblasts. Eur J Pediatr 160 (2001) 283-287
6. Funghini S., Donati M., Pasquini E., Zammarchi E., and Morrone A. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Hum Mutat 22 (2003) 340-341