A brain MRI showed bilateral symmetrical T2 hyperintense signal abnormalities involving white matter, globus pallidus, thalamus, brainstem, and dentate nuclei with restricted diffusion. Plasma amino acid and urine organic acid analyses at 5 months were, however, consistent with a diagnosis of MSUD. Newborn screening returned total leucine/isoleucine at the 99.5th centile of the population however, as second-tier testing reported minimal alloisoleucine, the results were considered inconsistent with MSUD. We report the case of a female infant who presented with mild gross motor delay at 4 months, and seizures with hypoglycaemia at 5 months. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficiency. Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. 8 Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia.7 NSW Newborn Screening Programme, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.6 NSW Biochemical Genetics Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.5 The Children's Hospital at Westmead Clinical School, Faculty of Medicine & Health, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia.4 Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia.3 Department of Molecular Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.2 Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
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