A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency

Gene. 2013 Sep 15;527(1):394-6. doi: 10.1016/j.gene.2013.03.096. Epub 2013 Jun 12.

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder. Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder and demonstrates X-linked inheritance. In female OTC deficiency, phenotypes are variable according to X-inactivation patterns. These disorders develop separately, and their co-morbidity is extremely rare. We report one girl with CAH showing recurrent hyperammonemia and hepatitis after 2 years-of-age due to additional OTC deficiency.

Keywords: 17-Hydroxyprogesterone; 17-OHP; 21-Hydroxylase deficient congenital adrenal hyperplasia; CAH; Co-morbidity; OTC; Ornithine transcarbamylase deficiency; Urea cycle disorder; congenital adrenal hyperplasia; ornithine transcarbamylase.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Hyperplasia, Congenital / complications
  • Adrenal Hyperplasia, Congenital / diagnosis*
  • Adrenal Hyperplasia, Congenital / genetics
  • Base Sequence
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Molecular Diagnostic Techniques
  • Molecular Sequence Data
  • Ornithine Carbamoyltransferase Deficiency Disease / complications
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis*
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics
  • Steroid 21-Hydroxylase / genetics*

Substances

  • CYP21A2 protein, human
  • Steroid 21-Hydroxylase