deficiency

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deficiency

Biology the absence of a gene or a region of a chromosome normally present
References in periodicals archive ?
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.
By far the most common of the urea cycle defects is the X-linked recessive disorder, ornithine transcarbamylase deficiency (OTC).
The metabolic diseases are divided into those associated with structural damage to the liver (Wilson's, alpha-1 antitrypsin) and those in which the liver is structurally normal and LT is required to replace a life-threatening enzyme deficiency (Crigler-Najjar syndrome, ornithine transcarbamylase deficiency, or hyperoxaluria type 1).
Plasma amino acid analysis revealed absence of citrulline and argininosuccinic acid, low normal ornithine, and high urinary orotic acid levels consistent with proximal urea cycle defects like Ornithine Transcarbamylase deficiency (OTC), N-acetyl Glutamate Synthase deficiency (NAGS), and Carbomyl Phosphate Synthase 1 deficiency (CPS1).