caa a22 4500 467932441 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0224-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0224-0 Atypical phenotype in a boy with a maple syrup urine disease [Elektronische Daten] [T. Ben-Omran, S. Blaser, H. Phillips, J. Callahan, A. Feigenbaum] Summary: Maple syrup urine disease (MSUD) is a metabolic disorder due to a block in the decarboxylation step in the catabolic pathways of the branched-chain amino acids (BCAAs). We describe an atypical presentation in an infant male. The patient presented with psychomotor retardation, profound hypotonia and elevated plasma levels of BCAAs, but no elevation of alloisoleucine. Cranial magnetic resonance imaging showed prominent diffuse CSF spaces, delayed myelin maturation and symmetrical signal abnormality within the globi pallidi, midbrain, dorsal pons and medulla. The cerebellar white matter was specifically spared. A mitochondrial disorder was suggested. After correction of feeding problems with G-tube feeds, his high BCAAs persisted and, on fourth analysis, alloisoleucine was seen. Subsequent fibroblast enzyme and mutation analysis confirmed MSUD due to E1-α subunit deficiency. After starting dietary treatment, there was no significant improvement in his hypotonia or his psychomotor development. However, the high signal within the globi pallidi had resolved. MSUD may have diverse clinical presentations, and should be considered in children who present with chronic psychomotor delay but no acute encephalopathic episodes. BCAA levels may not be very high, alloisoleucine may not always be detected in MSUD even with severe enzyme deficiency, and imaging may be misleading if seen in the chronic phase only. SSIEM and Springer, 2006 Ben-Omran T. Division of Clinical and Metabolic Genetics, Canada aut Blaser S. Division of Neuroradiology, Canada aut Phillips H. Division of Clinical and Metabolic Genetics, Canada aut Callahan J. Paediatric Laboratory Medicine/Genetic Metabolic Laboratory, The Hospital for Sick Children and University of Toronto, Toronto, Canada aut Feigenbaum A. Division of Clinical and Metabolic Genetics, Canada aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 195-200 0141-8955 29:1<195 2006 29 10545 https://doi.org/10.1007/s10545-006-0224-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0224-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ben-Omran T. Division of Clinical and Metabolic Genetics, Canada aut NATIONALLICENCE 700 1- Blaser S. Division of Neuroradiology, Canada aut NATIONALLICENCE 700 1- Phillips H. Division of Clinical and Metabolic Genetics, Canada aut NATIONALLICENCE 700 1- Callahan J. Paediatric Laboratory Medicine/Genetic Metabolic Laboratory, The Hospital for Sick Children and University of Toronto, Toronto, Canada aut NATIONALLICENCE 700 1- Feigenbaum A. Division of Clinical and Metabolic Genetics, Canada aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 195-200 0141-8955 29:1<195 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer