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Pediatrics
Diagnosis
Brain
Pathology-Based Diagnoses
Inherited Metabolic/Degenerative Disorders
Organic and Aminoacidopathies
Glutaric Aciduria Type 1
Glutaric Aciduria Type 1
Kevin R. Moore, MD; Susan I. Blaser, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              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. Biasucci G et al: Early neonatal glutaric aciduria type I hidden by perinatal asphyxia: a case report. Ital J Pediatr. 44(1):8, 2018
                                          2. Thomas A et al: Favourable outcome in a child with symptomatic diagnosis of glutaric aciduria type 1 despite vertical HIV infection and minor head trauma. Metab Brain Dis. 33(2):537-44, 2018
                                          3. Boy N et al: Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis. 12(1):77, 2017
                                          4. Boy N et al: Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 40(1):75-101, 2017
                                          5. Harting I et al: 1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites. J Inherit Metab Dis. 38(5):829-38, 2015
                                          6. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 38(6):1041-57, 2015
                                          7. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 38(6):1059-74, 2015
                                          8. 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
                                          9. Nunes J et al: Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J. 26(2):155-61, 2013
                                          10. 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
                                          11. 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
                                          12. Kölker S et al: Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis. 34(3):677-94, 2011
                                          13. Harting I et al: Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 132(Pt 7):1764-82, 2009
                                          14. 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
                                          15. 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
                                          16. Strauss KA et al: Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet. 121C(1):38-52, 2003
                                          17. 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
                                          18. 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

                                                    • Diagnostic Checklist

                                                      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. Biasucci G et al: Early neonatal glutaric aciduria type I hidden by perinatal asphyxia: a case report. Ital J Pediatr. 44(1):8, 2018
                                                                                  2. Thomas A et al: Favourable outcome in a child with symptomatic diagnosis of glutaric aciduria type 1 despite vertical HIV infection and minor head trauma. Metab Brain Dis. 33(2):537-44, 2018
                                                                                  3. Boy N et al: Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis. 12(1):77, 2017
                                                                                  4. Boy N et al: Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 40(1):75-101, 2017
                                                                                  5. Harting I et al: 1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites. J Inherit Metab Dis. 38(5):829-38, 2015
                                                                                  6. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 38(6):1041-57, 2015
                                                                                  7. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 38(6):1059-74, 2015
                                                                                  8. 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
                                                                                  9. Nunes J et al: Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J. 26(2):155-61, 2013
                                                                                  10. 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
                                                                                  11. 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
                                                                                  12. Kölker S et al: Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis. 34(3):677-94, 2011
                                                                                  13. Harting I et al: Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 132(Pt 7):1764-82, 2009
                                                                                  14. 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
                                                                                  15. 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
                                                                                  16. Strauss KA et al: Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet. 121C(1):38-52, 2003
                                                                                  17. 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
                                                                                  18. Twomey EL et al: Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol. 33(12):823-30, 2003