What are the symptoms associated with Maple Syrup Urine Disease?

Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder characterized by the body's inability to properly break down specific amino acids, specifically branched-chain amino acids (leucine, isoleucine, and valine). This condition arises from a deficiency in the enzyme complex responsible for the decarboxylation of these amino acids.

The symptoms associated with MSUD typically present shortly after birth and can include feeding difficulties, vomiting, and neurological issues such as seizures. One of the most significant clinical features is the development of hypoglycemia, which can occur due to the body's disrupted metabolism. Additionally, affected infants may exhibit a distinctive sweet or maple syrup-like odor to their urine, which is a hallmark of the condition.

Feeding difficulties and vomiting often occur as the disease leads to an accumulation of toxic byproducts, which can cause irritability and neurological symptoms. Left untreated, the condition can lead to severe neurological impairment and can be life-threatening.

In contrast, the other options do not accurately represent the symptoms of Maple Syrup Urine Disease. Urine turning black upon standing is indicative of conditions such as alkaptonuria. Features similar to Marfan syndrome point toward connective tissue disorders and do not align with the metabolic disturbances