caa a22 4500 46904392X CHVBK 20180323132818.0 cr unu---uuuuu 170328e19920101xx s 000 0 eng 10.1007/BF01800354 doi (NATIONALLICENCE)springer-10.1007/BF01800354 Maple syrup urine disease: Interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination [Elektronische Daten] [E. Treacy, C. Clow, T. Reade, D. Chitayat, O. Mamer, C. Scriver] Summary: Four patients with classical maple syrup urine disease were treated for up to 5885 days per patient with a relaxed protocol allowing branched-chain amino acid levels in plasma to rise about 5 times the normal mean value. The patients have had satisfactory development and lifestyle. They spent 318 days in hospital during 19 937 aggregate treatment days. Plasma levels of leucine and the corresponding 2-oxo acid were shown to be elevated disproportionately relative to the other branched-chain metabolites. Levels of isoleucine and valine were lower than those of leucine apparently because of runout into alternative metabolite pools, namely theR metabolites for isoleucine and the hydroxyacid for valine. The chronic accumulation of branched-chain 2-oxo acid(s) in our patients was associated with chronic dysmyelinating changes in CNS visible by imaging. Another patient with a thiamine-responsive variant of maple syrup urine disease had five acute crises incurring 29 days in hospital in a total of 6910 treatment days. However, she did not have chronic metabolic dyshomeostasis (her average plasma amino acid values were normal) and she had no evidence of dysmyelination. A relaxed treatment protocol for patients with maple syrup urine disease may benefit them in quality of life, but it apparently exacts a cost in metabolic control and CNS pathology. SSIEM and Kluwer Academic Publishers, 1992 Treacy E. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut Clow C. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut Reade T. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut Chitayat D. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut Mamer O. Biomedical/Mass Spectrometry Unit, McGill University, H3H 1P3, Montreal, Quebec, Canada aut Scriver C. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 121-135 0141-8955 15:1<121 1992 15 10545 https://doi.org/10.1007/BF01800354 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800354 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Treacy E. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut NATIONALLICENCE 700 1- Clow C. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut NATIONALLICENCE 700 1- Reade T. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut NATIONALLICENCE 700 1- Chitayat D. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut NATIONALLICENCE 700 1- Mamer O. Biomedical/Mass Spectrometry Unit, McGill University, H3H 1P3, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Scriver C. DeBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Canada aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 121-135 0141-8955 15:1<121 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer