HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Antepartum ornithine transcarbamylase deficiency.

Abstract
Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Plasma amino acid and urine organic acid analysis revealed OTCD. After combined modality treatment with arginine, sodium benzoate and hemodialysis, the patient's plasma ammonia level stabilized and her mental status returned to normal. At last she recovered without any damage left.
AuthorsHitoshi Nakajima, Yosuke Sasaki, Tadashi Maeda, Masako Takeda, Noriko Hara, Kazushige Nakanishi, Yoshihisa Urita, Risa Hattori, Ken Miura, Tomoko Taniguchi
JournalCase reports in gastroenterology (Case Rep Gastroenterol) 2014 Sep-Dec Vol. 8 Issue 3 Pg. 337-45 ISSN: 1662-0631 [Print] Switzerland
PMID25759629 (Publication Type: Case Reports)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: