Abstract

REVIEW ON MAPLE SYRUP URINE DISEASE

Chethan Kumar J. K.*, Grinton Josvi Veigas, Sajan Fancis P. and Ravi Kumar Nayak

ABSTRACT

The autosomal illness known as maple syrup urine disease (MSUD) is brought on by diminished activity of the BCKDC, which catalyses the irreversible catabolism of branched-chain amino acids (BCAAs).[1] The aetiology of this illness, which is clinically characterised by seizures, psychomotor retardation, coma, ketoacidosis, and mental retardation, is not fully known. L-Carnitine (L-Car) plays a crucial function in the transfer of long-chain fatty acids for oxidation and ATP production throughout the metabolic process, which results in oxidative stress and contributes to the neuropathology of MSUD.[2] The clinical spectrum and severity of the five major recognised variations vary. The classic presentation manifests as developmental delay, failure to thrive, feeding issues, and a urine and cerumen odour of maple syrup in the neonatal period. If untreated, this classic presentation can result in irreversible neurological complications, such as stereotypical movements, metabolic decompensation, and death. A diet free of BCAAs and careful metabolic monitoring constitute the course of treatment. Patients who receive early treatment often have positive clinical results. As part of the Recommended Uniform Screening Panel (RUSP), newborn screening for MSUD is now routinely done.[3]

Keywords: Maple syrup urine disease (MSUD), Branched-chain ?-ketoacid dehydrogenase complex (BCKDC), Branched-chain amino acids (BCAAs), newborn screening.