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Glutaric Aciduria Type 1
Susan I. Blaser, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Glutaric acidemia type 1 (GA1)
              • Mitochondrial glutaryl-coenzyme A dehydrogenase (GCDH) deficiency
            • Definitions

              • Inborn error of metabolism characterized by encephalopathic crises and resultant severe dystonic-dyskinetic movement disorder

            IMAGING

            • General Features

              • CT Findings

                • MR 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

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Harting I et al: <sup>1</sup>H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites. J Inherit Metab Dis. ePub, 2015
                                        2. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. ePub, 2015
                                        3. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. ePub, 2015
                                        4. Couce ML et al: Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. Eur J Paediatr Neurol. 17(4):383-9, 2013
                                        5. Nunes J et al: Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J. 26(2):155-61, 2013
                                        6. Young-Lin N et al: Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia. Neurology. 81(24):e182-3, 2013
                                        7. Kölker S et al: Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. Mol Genet Metab. 107(1-2):72-80, 2012
                                        8. Kölker S et al: Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis. 34(3):677-94, 2011
                                        9. Harting I et al: Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 132(Pt 7):1764-82, 2009
                                        10. Mellerio C et al: Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case. Ultrasound Obstet Gynecol. 31(6):712-4, 2008
                                        11. Elster AW: Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis. J Comput Assist Tomogr. 28(1):98-100, 2004
                                        12. Strauss KA et al: Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet. 121C(1):38-52, 2003
                                        13. Strauss KA et al: Type I glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet. 121C(1):53-70, 2003
                                        14. Twomey EL et al: Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol. 33(12):823-30, 2003
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Glutaric acidemia type 1 (GA1)
                                                    • Mitochondrial glutaryl-coenzyme A dehydrogenase (GCDH) deficiency
                                                  • Definitions

                                                    • Inborn error of metabolism characterized by encephalopathic crises and resultant severe dystonic-dyskinetic movement disorder

                                                  IMAGING

                                                  • General Features

                                                    • CT Findings

                                                      • MR 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

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Harting I et al: <sup>1</sup>H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites. J Inherit Metab Dis. ePub, 2015
                                                                              2. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. ePub, 2015
                                                                              3. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. ePub, 2015
                                                                              4. Couce ML et al: Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. Eur J Paediatr Neurol. 17(4):383-9, 2013
                                                                              5. Nunes J et al: Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J. 26(2):155-61, 2013
                                                                              6. Young-Lin N et al: Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia. Neurology. 81(24):e182-3, 2013
                                                                              7. Kölker S et al: Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. Mol Genet Metab. 107(1-2):72-80, 2012
                                                                              8. Kölker S et al: Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis. 34(3):677-94, 2011
                                                                              9. Harting I et al: Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 132(Pt 7):1764-82, 2009
                                                                              10. Mellerio C et al: Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case. Ultrasound Obstet Gynecol. 31(6):712-4, 2008
                                                                              11. Elster AW: Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis. J Comput Assist Tomogr. 28(1):98-100, 2004
                                                                              12. Strauss KA et al: Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet. 121C(1):38-52, 2003
                                                                              13. Strauss KA et al: Type I glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet. 121C(1):53-70, 2003
                                                                              14. Twomey EL et al: Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol. 33(12):823-30, 2003