Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old

Journal of Clinical Neuroscience

Volumn 13, Issue 6, 2006, Pages 702-706

  Eather, G ^a   Coman, D ^b,c   Lander, C ^a   McGill, J ^b,c  

^a ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Carbamyl phosphate synthase deficiency; Hyperammonaemia; Pregnancy; Urea cycle

Indexed keywords

ARGININE; ARYLBUTYRIC ACID DERIVATIVE; BENZOIC ACID; CARBAMOYL PHOSPHATE SYNTHASE; CITRULLINE;

ADULT; ARTICLE; CALORIC INTAKE; CARBAMYL PHOSPHATE SYNTHASE DEFICIENCY; CASE REPORT; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; FEMALE; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; LIVER BIOPSY; MENTAL DISEASE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PREGNANT WOMAN; PRIORITY JOURNAL; PROTEIN RESTRICTION; UREA CYCLE;

ADULT; BASAL GANGLIA; CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; CEREBELLUM; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; PREGNANCY;

EID: 33746021115     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jocn.2005.07.014     Document Type: Article

References (24)

1. Brusilow S.W., and Horwich A.L. Urea Cycle enzymes. In: Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds). The Metabolic and Molecular Bases of Inherited Disease. Eighth ed. Vol. 2 (2001), McGraw-Hill, New York 1909-1963
2. Online Mendelian Inheritance in Man (Online). 2003 Apr 12 (cited 2004 Nov 18); Available from: URL: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM.
3. Hoshide R., Matsuura T., Haraguchi Y., et al. Carbamyl phosphate synthetase 1 deficiency: One base substitution in an exon of the CPS1 gene causes a 9-basepair deletion due to aberrant splicing. J Clin Invest 91 (1993) 1884-1887
4. Takeoka M., Soman T.B., Shih V.E., et al. Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy. Pediatr Neurol 24 (2001) 193-199
5. Summar M.L., Hall L.D., Hutcheson H.B., et al. Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase 1 gene. Gene 311 (2003) 51-57
6. Belanger-Quintana A., Martinez-Pardo M., Wermuth B., et al. Hyperammonaemia as a cause of psychosis in an adolescent. Eur J Pediatr 162 (2003) 773-775
7. Summar M., and Tuchman M. Proceedings of a consensus conference for the management of patients with urea cycle disorders. J Pediatr 138 (2001) S6-S10
8. Wong L.C., Craigen W.J., and O'Brien W.E. Postpartum coma and death due to carbamyl-phosphate synthetase 1 deficiency. Ann Intern Med 120 (1994) 216-217
9. Lo W.D., Sloan H.R., Sotos J.F., et al. Late clinical presentation of partial carbamyl phosphate synthetase 1 deficiency. Am J Dis Child 147 (1993) 267-269
10. Call G., Seay A.R., Sherry R., et al. Clinical features of carbamyl phosphate synthetase-1 deficiency in an adult. Ann Neurol 16 (1984) 90-93
11. Verbiest H.B.C., Straver J.S., Colombo J.P., et al. Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma. Acta Neurol Scand 86 (1992) 275-279
12. Estrov Y., Scaglia F., and Bodamer O.A.F. Psychiatric symptoms of inherited metabolic disease. J Inher Metab Dis 23 (2000) 2-6
13. Golomb M. Psychiatric symptoms in metabolic and other genetic disorders: Is our "organic" workup complete?. Harvard Rev Psychiatry 10 (2002) 242-248
14. Largilliere C. Psychiatric manifestations in girl with ornithine transcarbamylase deficiency. Lancet 345 (1995) 1113
15. Legras A., Labarthe F., Maillot F., et al. Late diagnosis of ornithine transcarbamylase defect in three related female patients: Polymorphic presentations. Crit Care Med 30 (2002) 241-244
16. Odent S., Roussey M., Journel H., et al. Argininosuccinic aciduria. A new case revealed by psychiatric disorders. J Genet Hum 37 (1989) 39-42
17. Wakutani Y., Nakayasu H., Takeshima T., et al. A case of late-onsetcarbamyl phosphate synthetase 1 deficiency, presenting periodic psychotic episodes coinciding with menstrual periods. Rinsho Shinkeigaku 41 (2001) 780-785
18. Sperl W., Felber S., Skadal D., et al. Metabolic stroke in carbamyl phosphate synthetase deficiency. Neuropediatrics 28 (1997) 229-234
19. Christodoulou J., Quareshi A., McInnes R., et al. Ornithine transcarbamylase deficiency presenting with stroke like episodes. J Pediatr 122 (1993) 423-425
20. Walter J. Inborn errors of metabolism and pregnancy. J Inherit Metab Dis 23 (2000) 229-236
21. Batshaw M.L., MacArthur R.B., and Tuchman M. Alternative pathway therapy for urea cycle disorders: Twenty years later. J Pediatr 38 (2001) S46-S54
22. Denno K.M., and Sadler T.W. Phenylalanine and its metabolites induce embryopathy's in mouse embryos in culture. Teratology 42 (1990) 565-570
23. Lea M.A., Randolph V.M., and Hodge S.K. Induction of histone acetylation and growth regulation in erythroleukemia cells by 4-phenylbutyrate and structural analogs. Anticancer Res 62 (1999) 221-227
24. Thibault A., Cooper M.R., Figg W.D., et al. A phase 1 and pharmacokinetic study of intravenous phenylacetate in patients with cancer. Cancer Res 310 (1994) 1630