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Maple Syrup Urine Disease
Susan I. Blaser, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          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. Xia W et al: Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease. J Pediatr Endocrinol Metab. ePub, 2015
                                          2. 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
                                          3. Strand JM et al: Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis. Metabolism. 63(8):1063-70, 2014
                                          4. Yang E et al: Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 52(2):279-319, 2014
                                          5. 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
                                          6. Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
                                          7. 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
                                          8. 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
                                          9. 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
                                          10. 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

                                                  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. Xia W et al: Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease. J Pediatr Endocrinol Metab. ePub, 2015
                                                                                  2. 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
                                                                                  3. Strand JM et al: Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis. Metabolism. 63(8):1063-70, 2014
                                                                                  4. Yang E et al: Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 52(2):279-319, 2014
                                                                                  5. 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
                                                                                  6. Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
                                                                                  7. 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
                                                                                  8. 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
                                                                                  9. 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
                                                                                  10. 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