Antepartum Ornithine Transcarbamylase Deficiency

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-yea...

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Bibliographic Details
Published in:Case reports in gastroenterology 2014-11, Vol.8 (3), p.337-345
Main Authors: Nakajima, Hitoshi, Sasaki, Yosuke, Maeda, Tadashi, Takeda, Masako, Hara, Noriko, Nakanishi, Kazushige, Urita, Yoshihisa, Hattori, Risa, Miura, Ken, Taniguchi, Tomoko
Format: Article
Language:English
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Ornithine transcarbamylase
Ornithine transcarbamylase deficiency
Pregnancy
Published: November 2014
Urea cycle deficiency
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Summary: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.
ISSN:1662-0631
1662-0631
DOI:10.1159/000369131