Ornithine transcarbamylase deficiency

Definition:

Ornithine transcarbamylase deficiency, the most common urea cycle defect, results in failure to thrive, hypotonia, seizures and mental retardation.

References:

[1]. A L Gropman, et al. Neurological implications of urea cycle disorders. J Inherit Metab Dis. 2007 Nov;30(6):865-79. [Content Brief]

[2]. Neil Gordon, et al. Ornithine transcarbamylase deficiency: a urea cycle defect. Eur J Paediatr Neurol. 2003;7(3):115-21. [Content Brief]

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