![]() Furthermore, the E1 subunit is composed of E1alpha and two E1beta subunits. Two regulatory subunits (BCKAD kinase and BCKAD phosphatase) are also associated with the E2 subunit's core. These subunits include dihydrolipoamide dehydrogenase (E3 subunit) and BCKAD decarboxylase (E1 subunit) bound to dihydrolipoyl acyltransferase (E2 subunit). Etiologyįour subunits comprise the BCKAD multienzyme complex. Good clinical outcomes can be expected if management is initiated early. If left untreated, irreversible neurological damage and metabolic catastrophe ensue. Treatment consists of close metabolic monitoring and dietary restriction of branched-chain amino acids. It classically manifests in the neonatal period with failure to thrive, delayed developmental milestones, feeding difficulties, and a maple syrup odor in the urine or cerumen. The underlying defect in the BCKAD complex disrupts the metabolism of branched-chain amino acids, which leads to an accumulation of branched-chain amino acids (BCAAs) in the plasma and their respective branched-chain ketoacids in the urine. This complex is responsible for the breakdown of branched-chain amino acids: It is a defect of metabolism due to abnormal activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. Maple syrup urine disease (MSUD) was first described as a rapid onset of Menkes' neurodegenerative disease in 1954. Explain the importance of improving care coordination among the interprofessional team to enhance the delivery of care for patients with maple syrup urine disease.Review the management options available for maple syrup urine disease.Describe the pathophysiology of maple syrup urine disease.Outline the typical clinical presentation of a patient with maple syrup urine disease.This activity reviews the evaluation and management of maple syrup urine disease and highlights the interprofessional team's role in managing patients with this condition. Prompt diagnosis and treatment are necessary to prevent or reduce the severity of these complications. It can result in fatal irreversible neurocognitive deficits. ![]() ![]() Maple syrup urine disease is a rare, inborn error of metabolism, resulting in decreased branched-chain ketoacid dehydrogenase enzyme activity.
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