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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
- 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
- Kathait AS et al: Imaging findings in maple syrup urine disease: a case report. J Pediatr Neurosci. 13(1):103-5, 2018
- 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
- 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
- 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
- Strand JM et al: Genome instability in maple syrup urine disease correlates with impaired mitochondrial biogenesis. Metabolism. 63(8):1063-70, 2014
- Yang E et al: Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 52(2):279-319, 2014
- 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
- Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
- 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
- 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
- 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
- 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
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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
- 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
- Kathait AS et al: Imaging findings in maple syrup urine disease: a case report. J Pediatr Neurosci. 13(1):103-5, 2018
- 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
- 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
- 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
- Strand JM et al: Genome instability in maple syrup urine disease correlates with impaired mitochondrial biogenesis. Metabolism. 63(8):1063-70, 2014
- Yang E et al: Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 52(2):279-319, 2014
- 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
- Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
- 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
- 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
- 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
- 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
