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Imaging in classic form of maple syrup urine disease: a rare metabolic central nervous system.

Jain A, Jagdeesh K, Mane R, Singla S - J Clin Neonatol (2013)

Bottom Line: The condition gets its name from the distinctive sweet odour of affected infants' urine.Imaging is characterestized by MSUD oedema affecting the myelinated white matter.We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiodiagnosis, M S Ramaiah Medical College and Teaching Hospital, Bangalore, Karnataka, India.

ABSTRACT
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid metabolism. The condition gets its name from the distinctive sweet odour of affected infants' urine. MSUD is caused by a deficiency of the branched-chain α-ketoacid dehydrogenase enzyme complex, leading to accumulation of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. Imaging is characterestized by MSUD oedema affecting the myelinated white matter. We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy.

No MeSH data available.


Related in: MedlinePlus

Image spectroscopy
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Figure 5: Image spectroscopy

Mentions: Multivoxel proton MR spectroscopy showed the presence of BCAAs and branched-chain α-keto acids resonating at 0.9-1.0 ppm, which are seen especially during a metabolic crisis[45] [Figures 4 and 5].


Imaging in classic form of maple syrup urine disease: a rare metabolic central nervous system.

Jain A, Jagdeesh K, Mane R, Singla S - J Clin Neonatol (2013)

Image spectroscopy
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3775146&req=5

Figure 5: Image spectroscopy
Mentions: Multivoxel proton MR spectroscopy showed the presence of BCAAs and branched-chain α-keto acids resonating at 0.9-1.0 ppm, which are seen especially during a metabolic crisis[45] [Figures 4 and 5].

Bottom Line: The condition gets its name from the distinctive sweet odour of affected infants' urine.Imaging is characterestized by MSUD oedema affecting the myelinated white matter.We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiodiagnosis, M S Ramaiah Medical College and Teaching Hospital, Bangalore, Karnataka, India.

ABSTRACT
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid metabolism. The condition gets its name from the distinctive sweet odour of affected infants' urine. MSUD is caused by a deficiency of the branched-chain α-ketoacid dehydrogenase enzyme complex, leading to accumulation of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. Imaging is characterestized by MSUD oedema affecting the myelinated white matter. We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy.

No MeSH data available.


Related in: MedlinePlus