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Ornithine transcarbamylase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Some males have been reported in whom there was a much milder or late-onset clinical phenotype, similar to that described in females. These patients appear to represent variants different from the classic one in that they have a defect in the enzyme that leads to partial activity [24, 31–35]. Prominent symptoms are recurrent vomiting, lethargy, irritability, and protein avoidance. A patient with one of these variants may have normal development and may progress normally in school. The disease may present in adulthood [33]. It may present with bizarre behavior [33, 34]. In fact, recurrent episodes of bizarre behavior may be the only symptoms of this type of OTCD [33]. Measurement of orotic acid and orotidine, even after allopurinol or a protein load, failed to elucidate the diagnosis in this patient, but a high protein diet led to orotic aciduria. In the late onset male, as in the symptomatic female, the disease is nevertheless potentially lethal, and death may ultimately occur in a hyperammonemic episode even after a number of symptom-free years. In a series of 21 male patients who presented at ages ranging from two months to 44 years, 43 percent died [35]. The mean interval from the age at onset to that at diagnosis was 8.8 months, with a range of up to 54 months. An initial diagnosis of Reye syndrome was made in 52 percent of the patients. Death with cerebral edema was the result of an initial episode following relatively trivial surgery in a 52-year-old man [36]. The diagnosis was made by mutational analysis in his heterozygous daughter. Prenatal diagnosis of her affected twin sons led to effective management. Among complications of OTC deficiency, sudden strokes have been reported [26]. This has also been seen in carbamylphosphate synthetase (CPS) deficiency, citrullinemia type I, and an enlarging group of metabolic diseases.
Birth weight related essential, non-essential and conditionally essential amino acid blood concentrations in 12,000 breastfed full-term infants perinatally
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2020
Penelope D. Manta-Vogli, Kleopatra H. Schulpis, Yannis L. Loukas, Yannis Dotsikas
According to the literature, high concentrations of Orn in the blood are highly implicated with gyrate atrophy which is a serious neuro-degenerative inherited disease [29]. Additionally, elevated Cit levels appear in citrullinemia type I, argininosuccinic aciduria, and citrine deficiency, whereas, low serum citrulline concentration is associated with ornithine transcarbamylase (OTC) deficiency [34] and CPS I deficiency concomitant with hyperammonemia.