Abstract

CLINICAL REVIEW ON PATHOGENESIS, DIAGNOSIS, RISK FACTORS AND MANAGEMENT OF MAPLE SYRUP URINE DISEASE

Sandra Simon*, Arlin Joseph, Aksa A. Kunju and Sajan Francis P.

ABSTRACT

The lowering of branched-chain α-ketoacid dehydrogenase (BCKD) complex activity leads to a potentially lethal metabolic illness known as maple syrup urine disease (MSUD). Mutations in four genes are present in MSUD: BCKDHA, BCKDHB, DLD, and DBT. Higher concentrations of branched-chain amino acids (BCAAs) and their related branched-chain α-ketoacids (BCKAs) are indicative of a metabolic condition known as Maple Syrup Urine Disease (MSUD), or branched-chain α-ketoacid dehydrogenase deficiency. Since the three branched-chain amino acids—leucine, isoleucine, and valine—cannot be produced, protein synthesis and cell signaling depend on their metabolism. Patients with MSUD appear normal at birth, but by the time they are 12 hours old, their urine and cerumen may smell like burnt sugar or maple syrup. Symptoms such as nausea, vomiting, lethargy, difficulty sucking, and irritability may manifest in the first week of life. People may have seizures; in the event that treatment is not administered, the growing encephalopathy may cause a coma or even death. Complex metabolic disorders such as MSUD have been associated with harm to the central nervous system, developmental delays, and cognitive deficiencies. The main objective of this review was to identify maple syrup urine disease, focusing on the pathogenesis, diagnosis, risk factors and management of this disease. 

Keywords: Maple syrup urine disease, ?-ketoacid dehydrogenase, Branched-chain amino acids.