title: 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.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors.forename: Yoo-Mi
authors.initials: YM
authors.lastname: Kim
authors.forename: Beom Hee
authors.initials: BH
authors.lastname: Lee
authors.forename: Jin-Ho
authors.initials: JH
authors.lastname: Choi
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han Hyuk
authors.initials: HH
authors.lastname: Lim
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D025202:Molecular Diagnostic Techniques; D008969:Molecular Sequence Data; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase
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