Thelansis

  Maple syrup urine disease (MSUD) is a rare inborn metabolic error characterized by reduced branched-chain ketoacid dehydrogenase enzyme activity. This deficiency can lead to severe irreversible neurocognitive deficits, underlining the importance of prompt diagnosis and treatment to mitigate the severity of complications. The branched-chain ketoacid dehydrogenase (BCKAD) complex is comprised of four subunits. These include the E1 subunit (BCKAD decarboxylase), the E2 subunit (dihydrolipoyl acyltransferase), and the E3 subunit (dihydrolipoamide dehydrogenase). Additionally, regulatory subunits known as BCKAD kinase and BCKAD phosphatase are associated with the core of the E2 subunit. The E1 subunit consists of E1alpha and two E1beta subunits. The root cause of the metabolic disorder lies in the decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex located within the mitochondria. This disorder is inherited in an autosomal recessive manner. Maple syrup urin...

 Maple syrup urine disease (MSUD) is a rare inborn metabolic error characterized by reduced branched-chain ketoacid dehydrogenase enzyme activity. This deficiency can lead to severe irreversible neurocognitive deficits, underlining the importance of prompt diagnosis and treatment to mitigate the severity of complications. The branched-chain ketoacid dehydrogenase (BCKAD) complex is comprised of four subunits. These include the E1 subunit (BCKAD decarboxylase), the E2 subunit (dihydrolipoyl acyltransferase), and the E3 subunit (dihydrolipoamide dehydrogenase). Additionally, regulatory subunits known as BCKAD kinase and BCKAD phosphatase are associated with the core of the E2 subunit. The E1 subunit consists of E1alpha and two E1beta subunits. The root cause of the metabolic disorder lies in the decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex located within the mitochondria. This disorder is inherited in an autosomal recessive manner. Maple syrup urine d...