Survival and Outcome of Patients With Urea Cycle Disorders: A Single-Center Experience

Anil Jalan, Ketki Kudalkar, Mohini Joshi, Shruti Shirke, Anuja Mahamunkar, Rishikesh Jalan, Durga Shinde, Monal Borugale, Rasika Tawde, Johannes Häberle

Abstract

Background: Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification. Ammonia is detoxified by its conversion to urea in the liver. 

Aim: To evaluate the spectrum of UCDs and the outcome of patients with UCDs in India

Materials and Methods: This was a retrospective study of patients with UCDs who presented to our center during 2000 to 2016. We biochemically suspected a UCD in 59 patients (34 males and 25 females) who had typical clinical symptoms. Presence of UCD was confirmed in 36 (24 males and 12 females) patients by molecular studies. 

Results: Molecular diagnosis showed presence of citrullinemia type I in 23 patients, argininosuccinic aciduria in 6, ornithine transcarbamylase deficiency (OTCD) in 3, carbamoyl phosphate synthetase 1 deficiency in 1, N-acetyl glutamate synthase deficiency in 2, and arginase deficiency (ARGD) in 1.

Of the 36 patients with confirmed UCD, 23 died (63.9% mortality), 3 were lost to follow-up, and 10 (5 with argininosuccinate synthetase deficiency, 1 with argininosuccinate lyase deficiency, 3 with OTCD, and 1 with ARGD) are being followed up regularly and have good metabolic control.

Conclusion: In India, owing to the absence of newborn screening, UCDs are detected only after development of symptoms, resulting in a high rate of morbidity and mortality (23 of 36 patients died). Citrullinemia type I is the commonest UCD (detected in 23 of 36 patients), with the common mutation p.Gly390Arg seen in more than half of the patients with the disorder (52.17%). Early and aggressive treatment has resulted in good outcome in only 2 patients, while 4 were mildly affected. Of those alive, 50% have epilepsy, 40% have cerebral palsy, and 40% have neurobehavioral problems.

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