Research Article: Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency
Abstract:
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait. Defects in the OTC gene cause an impairment in ureagenesis, resulting in hyperammonemia, which is a direct cause of brain damage and death. Patients with late-onset OTCD can develop symptoms from infancy to later childhood, adolescence or adulthood. Clinical manifestations of adults with OTCD vary in acuity. Clinical symptoms can be aggravated by metabolic stressors or the presence of a catabolic state, or due to increased demands upon the urea. A prompt diagnosis and relevant biochemical and genetic investigations allow the rapid introduction of the right treatment and prevent long-term complications and mortality. This narrative review outlines challenges in diagnosing and managing patients with late-onset OTCD.
Introduction:
The urea cycle is the physiological primary pathway for removing nitrogen, a toxic byproduct of amino acid metabolism. Consisting of five enzymes, one cofactor producer and two mitochondrial transport molecules in the mammalian liver, the urea cycle converts ammonia to urea for urinary excretion [1,2]. Urea cycle disorders (UCD) are monogenic disorders caused by decreased function in any of the eight components of this cycle. Common complications of UCD include the accumulation of ammonia, which is neurotoxic…
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