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European Journal of Pediatrics

, Volume 146, Issue 4, pp 370–372 | Cite as

Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method

  • K. Hayasaka
  • K. Metoki
  • S. Ishiguro
  • S. Kato
  • T. Chiba
  • M. Hirooka
  • M. Kikuchi
  • I. Kurobane
  • K. Narisawa
  • K. Tada
Original Investigations

Abstract

Females heterozygous for the X-linked urea cycle disorder, ornithine transcarbamylase (OTC) deficiency have a significant risk of developing hyperammonaemia. Diagnosis of this genetic defect in a proband is the essential starting point for family studies. By an immunohistochemical analysis of the liver specimens fixed in 10% formalin, we confirmed heterozygous status for OTC deficiency in two female patients, a 15-year-old girl and a 2-year-old girl, who died of hyperammonaemia. Since most affected males lack cross reactive materials (CRM), an immunochemical analysis should be useful for the diagnosis of most heterozygous females.

Key words

Ornithine transcarbamylase deficiency Heterozygote Immunohistochemical analysis 

Abbreviations

OTC

ornithine transcarbamylase

CRM

cross reactive materials

RFLPs

restriction fragment length polymorphisms

CPS I

carbamylphosphate synthetase I

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References

  1. 1.
    Batshaw ML, Msall M, Beaudet AL, Trojak J (1986) Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr 108:236–241Google Scholar
  2. 2.
    Briand P, Francois B, Rabier D, Cathelineau L (1982) Ornithine transcarbamylase deficiencies in human males: kinetic and immunochemical classification. Biochem Biophys Acta 704:100–106Google Scholar
  3. 3.
    Brown GW Jr, Cohen PP (1959) Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver. J Biol Chem 234:1769–1774Google Scholar
  4. 4.
    Hsu SM, Raine L, Fanger H (1981) Use of avidin-biotinperoxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures. J Histochem Cytochem 29:577–580Google Scholar
  5. 5.
    Lusty CJ (1979) Carbamoylphosphate synthetase I of rat-liver mitochondria: purification, properties and peptide molecular weight. Eur J Biochem 85:373–383Google Scholar
  6. 6.
    Mori M, Uchiyama C, Miura S, Tatibana M, Nagayama E (1980) Ornithine carbamyltransferase deficiency: coexistence of active and inactive forms of enzyme. Clin Chim Acta 104:291–299Google Scholar
  7. 7.
    Morin CL, Weber M, Qureshi I, Letarte J (1979) Reye's syndrome in infancy. Studies on ammonia metabolism. In: Crocker JFS, Bagnell PC, Lee SH, Ozere RL, Renton KW, Rozee KR (eds) Reye's syndrome II. Grune & Stratton, New York, pp 101–153Google Scholar
  8. 8.
    Ricciuti FC, Gelehrter TD, Rosenberg LE (1976) X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase. Am J Hum Genet 28:332–338Google Scholar
  9. 9.
    Short EM, Conn HO, Snodgrass PJ, Campbell AGM, Rosenberg LE (1973) Evidence for X-linked dominant inheritance of ornithine transcarbamylase deficiency. N Engl J Med 288:7–12Google Scholar
  10. 10.
    Walser M (1983) Urea cycle disorders and other hereditary hyperammonemic syndromes. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 402–438Google Scholar

Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • K. Hayasaka
    • 1
  • K. Metoki
    • 1
  • S. Ishiguro
    • 2
  • S. Kato
    • 1
  • T. Chiba
    • 2
  • M. Hirooka
    • 3
  • M. Kikuchi
    • 1
  • I. Kurobane
    • 1
  • K. Narisawa
    • 1
  • K. Tada
    • 1
  1. 1.Department of PediatricsTohoku University School of MedicineSendaiJapan
  2. 2.Department of PsychiatricsSendai National HospitalSendaiJapan
  3. 3.Department of PediatricsIwate Prefectural Central HospitalMoriokaJapan

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