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

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.

• Authors: Yoo-Mi Kim, Beom Hee Lee, Jin-Ho Choi, Gu-Hwan Kim, Han Hyuk Lim, Han-Wook Yoo
• Journal: Gene (Gene) Vol. 527 Issue 1 Pg. 394-6 (Sep 15 2013) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 23769969 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• CYP21A2 protein, human
• Steroid 21-Hydroxylase

Topics

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