caa a22 4500 469044853 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799616 doi (NATIONALLICENCE)springer-10.1007/BF01799616 Bachmann C. Laboratoire Central de Chimie Clinique, Centre Hospitalier Universitaire Vaudois, 1011, Lausanne, Switzerland aut Ornithine carbamoyl transferase deficiency: Findings, models and problems [Elektronische Daten] [C. Bachmann] Summary: The initial clinical symptoms of ornithine carbamoyl transferase deficiency depend on the age of onset. Respiratory distress on the first day of life does not allow exclusion of OCT deficiency in the individual patient. The acid-base status is not useful as a discriminant between urea-cycle disorders and organic acidurias. Beyond the neonatal age, a second period of increased risk for often lethal hyperammonaemic crises is found between 12 and 15 years of age. For definite diagnosis (pre- and postnatal) of heterozygotes the quantity of tissue obtained should be sufficient to obtain a representative sample for a mosaic structure. Experimental work gives some clues for the interpretation of reversible symptoms of hyperammonaemia. The increased transport of tryptophan at the blood-brain barrier in presence of increased glutamine concentration in tissue appears to depend on intact gammaglutamyl transpeptidase in brain microvessels and involves at least in part the L-carrier. Animal research on the mechanisms leading to irreversible damage in hyperammonaemia should be encouraged in order to define reliable predictive criteria for clinical decisions. SSIEM and Kluwer Academic Publishers, 1992 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 578-591 0141-8955 15:4<578 1992 15 10545 https://doi.org/10.1007/BF01799616 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799616 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Bachmann C. Laboratoire Central de Chimie Clinique, Centre Hospitalier Universitaire Vaudois, 1011, Lausanne, Switzerland aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 578-591 0141-8955 15:4<578 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer