Partial Ornithine Transcarbamylase Deficiency in Females: Diagnosis by an Immunohistochemical Method

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1987 Jul 1

PMID 3308467

Citations 2

Authors

K Hayasaka

K Metoki

S Ishiguro

S Kato

T Chiba

M Hirooka

M Kikuchi

I Kurobane

K Narisawa

K Tada

Affiliations

Soon will be listed here.

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.

Citing Articles

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

Gallagher R, Lam C, Wong D, Cederbaum S, Sokol R J Pediatr. 2014; 164(4):720-725.e6.

PMID: 24485820 PMC: 4070427. DOI: 10.1016/j.jpeds.2013.12.024.

Ornithine carbamoyl transferase deficiency: findings, models and problems.

Bachmann C J Inherit Metab Dis. 1992; 15(4):578-91.

PMID: 1528018 DOI: 10.1007/BF01799616.

References

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