Imaging in classic form of maple syrup urine disease: a rare metabolic central nervous system.
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.
Department of Radiodiagnosis, M S Ramaiah Medical College and Teaching Hospital, Bangalore, Karnataka, India.
Aditi
A
Jain
K
K
Jagdeesh
Ranoji
R
Mane
Saurabh
S
Singla
Brain; branched-chain amino acids; diffusion-weighted magnetic resonance imaging; maple syrup urine disease