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Maple Syrup Urine Disease
Kevin R. Moore, MD; Susan I. Blaser, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Maple syrup urine disease (MSUD)
            • Synonyms

              • Leucine encephalopathy
            • Definitions

              • Inherited disorder of branched-chain amino acid (BCAA) metabolism presenting in newborns with neurologic deterioration, ketoacidosis, and hyperammonemia
              • Intermediate form presents later with developmental delay and failure to thrive
              • Intermittent form presents in late infancy (or later) with episodic decompensation
                • Ataxia, disorientation, altered behavior

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Chapman KA et al: Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. Mol Genet Metab Rep. 15:106-9, 2018
                                            2. Kathait AS et al: Imaging findings in maple syrup urine disease: a case report. J Pediatr Neurosci. 13(1):103-5, 2018
                                            3. Kenneson A et al: Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry. Mol Genet Metab Rep. 15:22-7, 2018
                                            4. Xia W et al: Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease. J Pediatr Endocrinol Metab. 28(7-8):805-8, 2015
                                            5. Sato T et al: Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis. Pediatr Int. 56(1):112-5, 2014
                                            6. Strand JM et al: Genome instability in maple syrup urine disease correlates with impaired mitochondrial biogenesis. Metabolism. 63(8):1063-70, 2014
                                            7. Yang E et al: Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 52(2):279-319, 2014
                                            8. Terek D et al: Diagnostic tools of early brain disturbances in an asymptomatic neonate with maple syrup urine disease. Neuropediatrics. 44(4):208-12, 2013
                                            9. Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
                                            10. Myers KA et al: Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatment. JIMD Rep. 3:103-6, 2012
                                            11. Zinnanti WJ et al: Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. Brain. 132(Pt 4):903-18, 2009
                                            12. Silao CL et al: Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection. Pediatr Int. 50(3):312-4, 2008
                                            13. Parmar H et al: Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings. J Comput Assist Tomogr. 28(1):93-7, 2004
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Pathology

                                                  • Clinical Issues

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Abbreviations

                                                        • Maple syrup urine disease (MSUD)
                                                      • Synonyms

                                                        • Leucine encephalopathy
                                                      • Definitions

                                                        • Inherited disorder of branched-chain amino acid (BCAA) metabolism presenting in newborns with neurologic deterioration, ketoacidosis, and hyperammonemia
                                                        • Intermediate form presents later with developmental delay and failure to thrive
                                                        • Intermittent form presents in late infancy (or later) with episodic decompensation
                                                          • Ataxia, disorientation, altered behavior

                                                      IMAGING

                                                      • General Features

                                                        • CT Findings

                                                          • MR Findings

                                                            • Ultrasonographic Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Staging, Grading, & Classification

                                                                      • Gross Pathologic & Surgical Features

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Chapman KA et al: Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. Mol Genet Metab Rep. 15:106-9, 2018
                                                                                      2. Kathait AS et al: Imaging findings in maple syrup urine disease: a case report. J Pediatr Neurosci. 13(1):103-5, 2018
                                                                                      3. Kenneson A et al: Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry. Mol Genet Metab Rep. 15:22-7, 2018
                                                                                      4. Xia W et al: Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease. J Pediatr Endocrinol Metab. 28(7-8):805-8, 2015
                                                                                      5. Sato T et al: Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis. Pediatr Int. 56(1):112-5, 2014
                                                                                      6. Strand JM et al: Genome instability in maple syrup urine disease correlates with impaired mitochondrial biogenesis. Metabolism. 63(8):1063-70, 2014
                                                                                      7. Yang E et al: Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 52(2):279-319, 2014
                                                                                      8. Terek D et al: Diagnostic tools of early brain disturbances in an asymptomatic neonate with maple syrup urine disease. Neuropediatrics. 44(4):208-12, 2013
                                                                                      9. Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
                                                                                      10. Myers KA et al: Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatment. JIMD Rep. 3:103-6, 2012
                                                                                      11. Zinnanti WJ et al: Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. Brain. 132(Pt 4):903-18, 2009
                                                                                      12. Silao CL et al: Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection. Pediatr Int. 50(3):312-4, 2008
                                                                                      13. Parmar H et al: Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings. J Comput Assist Tomogr. 28(1):93-7, 2004