Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus: A Cause of Postpartum Coma

New England Journal of Medicine

Volumn 322, Issue 23, 1990, Pages 1652-1655

  Arn, Pamela Hawks ^a   Hauser, Elizabeth R ^b   Thomas, George H ^c   Herman, Gail ^d   Hess, David ^e   Brusilow, Saul W ^b  

^a Nemour's Children's Clinic   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c John F Kennedy Institute ^*  (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e MEDICAL COLLEGE OF GEORGIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CITRULLINE; GLUTAMINE; ORNITHINE CARBAMOYLTRANSFERASE;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; CLINICAL ARTICLE; COMA; CONTROLLED STUDY; ENZYME DEFICIENCY; FATALITY; FEMALE; HEREDITY; HETEROZYGOTE; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; PREGNANCY; PRIORITY JOURNAL; PUERPERIUM;

ADULT; AMINO ACIDS; AMMONIA; CASE REPORT; COMA; FEMALE; HETEROZYGOTE; HUMAN; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; PREGNANCY; PUERPERAL DISORDERS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; UREA;

EID: 0025296601     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199006073222307     Document Type: Article

References (19)

1. Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill, 1989:629–63.
2. DiMagno EP, Lowe JE, Snodgrass PJ, Jones JD. Ornithine transcarbamylase deficiency — a cause of bizarre behavior in a man. N Engl J Med 1986; 315: 744–7.
3. Drogan E, Leonard JV. Late onset ornithine carbamoyl transferase deficiency in males. Arch Dis Child 1988; 63: 1363–7.
4. Finkelstein JE, Hauser E, Brusilow SW. Late onset ornithine transcarbamylase deficiency (OTCD) in males. Am J Hum Genet 1989; 45: Suppl: A5. abstract.
5. Rowe PC, Newman SL, Brusilow SW. Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med 1986; 314: 541–7.
6. Russell A. The implications of hyperammonemia in rare and common disorders, including migraine. Mt Sinai J Med 1973; 40: 609–30.
7. Brusilow SW. Inborn errors of ureagenesis. In: Lloyd JK, Scriver CR, eds. Genetic and metabolic disease in pediatrics. Vol. 5. London: Butterworths, 1985:140–65.
8. Batshaw M, Roan Y, Jung AL, Rosenberg LA, Brusilow SW. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N Engl J Med 1980; 302: 482–5.
9. Gilchrist JM, Coleman RA. Ornithine transcarbamylase deficiency: adult onset of severe symptoms. Ann Intern Med 1987; 106: 556–8.
10. Brusilow SW, Danney M, Waber L, et al. Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis. N Engl J Med 1984; 310: 1630–4.
11. Tuchman M, Tsat MY, Holzknecht RA, Brusilow SW. Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome. Pediatr Res 1989; 26: 77–82.
12. Hauser ER, Finkelstein JE, Valle D, Brusilow SW. Allopurinol-induced orotidinuria: a test for mutations at the ornithine carbamoyltransferase locus in women. N Engl J Med 1990; 322: 1641–5.
13. Brusilow SW, Batshaw ML, Waber LJ. Neonatal hyperammonemic coma. Adv Pediatr 1982; 29: 69–103.
14. Chaney AL, Marbach EP. Modified reagents for determination of urea and ammonia. Clin Chem 1962; 8: 130–2.
15. Hudak M, Jones MD Jr, Brusilow SW. Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation. J Pediatr 1985; 107: 712–9.
16. Levin B. Hereditary metabolic disorders of the urea cycle. Adv Clin Chem 1971; 14: 65–163.
17. Shih V. Hereditary urea cycle disorders. In: Grisolia S, Baguena R, Major F, eds. The urea cycle. New York: John Wiley, 1976:367–414.
18. Batshaw ML, Walser M, Brusilow SW. Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma. Pediatr Res 1980; 14: 1316–9.
19. Brusilow SW. Arginine: an indispensable amino acid for patients with inborn errors of urea synthesis. J Clin Invest 1984; 74: 2144–8.