Maple syrup urine disease (MSUD)

1- Characteristics:

• rare autosomal recessive disorder

• partial or complete in BCKD, a
o mitochondrial enzyme complex
o oxidatively decarboxylates Leu, Ile, Valine
o These BCAAs and their α-keto acids
o accumulate in the blood, causing a toxic effect
o that interferes with brain functions.
• The disease is characterized by
o feeding problems,
o vomiting,
o ketoacidosis,
o changes in muscle tone,
o neurologic problems that can result in coma (primarily due to
the rise in leucine), and a characteristic maple syrup-like odor
of the urine due to the rise in isoleucine.
o If untreated, the disease is fatal. If treatment is delayed,
intellectual disability results.

2- Screening and diagnosis:

a. prenatal diagnosis and neonatal screening
b. and most affected individuals are heterozygotes.