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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
- Biasucci G et al: Early neonatal glutaric aciduria type I hidden by perinatal asphyxia: a case report. Ital J Pediatr. 44(1):8, 2018
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Nunes J et al: Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J. 26(2):155-61, 2013
- 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
- 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
- Kölker S et al: Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis. 34(3):677-94, 2011
- Harting I et al: Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 132(Pt 7):1764-82, 2009
- 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
- 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
- Strauss KA et al: Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet. 121C(1):38-52, 2003
- 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
- Twomey EL et al: Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol. 33(12):823-30, 2003
Related Anatomy
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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
- Biasucci G et al: Early neonatal glutaric aciduria type I hidden by perinatal asphyxia: a case report. Ital J Pediatr. 44(1):8, 2018
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Nunes J et al: Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J. 26(2):155-61, 2013
- 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
- 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
- Kölker S et al: Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis. 34(3):677-94, 2011
- Harting I et al: Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 132(Pt 7):1764-82, 2009
- 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
- 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
- Strauss KA et al: Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet. 121C(1):38-52, 2003
- 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
- Twomey EL et al: Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol. 33(12):823-30, 2003
