[Report of a case with late-onset ornithine transcarbamylase deficiency with gas chromatography-mass spectrometry and DNA sequencing confirmation and literatures review].

OBJECTIVE

To discuss the clinical characteristics, diagnosis and treatment management of ornithine transcarbamylase deficiency (OTCD).

METHOD

Data of the clinical diagnosis and treatment of a case with OTCD were analyzed, and the domestic and international literature was reviewed.

RESULT

(1) The case was a boy, 8 years old; and the initial symptoms were vomiting and reduced consciousness for a day after eating a lot of eggs as previous similar history. The level of blood ammonia was 2 500 µmol/L. The patient was treated with fasting, high-calorie fluid intravenous infusion, reducing blood ammonia. However, the disease further aggravated and the patient died due to brain hernia and central cardiovascular failure. Finally, he was confirmed as OTCD through urine testing by gas chromatography-mass spectrometry, plasma amino acid examination (plasma arginine and citrullineurine reduced, orotic acid raised) and genetic testing (OTC c.386G>A p. (Arg129His)). (2) Data of 55 case reports about diagnosis and treatment outcome including 65 OTCD cases' clinical data in domestic and abroad reports in nearly 5 years. Their ages ranged from 3 days to 49 years; the common symptoms were vomiting and encephalopathy; both urine tests were positive in 52 cases; pathogenic genes had less repeated loci and located at Xp21.1 in 42 cases detected by OTC gene test; all of which had gene mutation.

CONCLUSION

The acute onset OTCD begins with the symptoms of vomiting and unconsciousness, with rapid rise of blood ammonia level. OTCD may cause high mortality.