Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.

Abstract excerpt

Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder of metabolism of the urea cycle. It usually causes hyperammonemic encephalopathy in males during the neonatal to-infantile period, whereas female carriers present with variable manifestations depending on their pattern of random chromosome X inactivation in the liver. Early clinical manifestations of hyperammonemiaare nonspecific often leading...

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