deficiency

(redirected from Ornithine transcarbamylase deficiency)
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deficiency

Biology the absence of a gene or a region of a chromosome normally present
Collins Discovery Encyclopedia, 1st edition © HarperCollins Publishers 2005
References in periodicals archive ?
(12.) McCullough BA, Yudkoff M, Batshaw ML and et al.Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.
Mitry et al., "Hepatocyte transplantation followed by auxiliary liver transplantation - A novel treatment for ornithine transcarbamylase deficiency," American Journal of Transplantation, vol.
Ornithine Transcarbamylase Deficiency (OTCD), a rare liver disorder caused by an inherited single-gene deficiency, results in hyperammonemia (elevated ammonia in the blood), often leading to irreversible neurological impairment, coma and death.
Wilcken, "Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery" Medical Journal of Australia, vol.
Kim et al., "Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency," Journal of Human Genetics, vol.
Anytime you turn the skin over consistently, you often need a lot of zinc." Mimickers of zinc deficiency include biotinidase deficiency, methylmalonic acidemia, propionic acidemia, maple syrup urine disease, citrullinemia, and ornithine transcarbamylase deficiency.