What happens if maple syrup urine disease is not treated?

The condition gets its name from the distinctive sweet odor of affected infants’ urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

What are the side effects of maple syrup urine disease?

Complications of maple syrup urine disease include:

• Brain damage, neurological problems, and developmental delays.
• Increased risk of attention deficit/hyperactivity disorder (ADHD), anxiety, and depression.
• Loss of bone mass, causing bones to fracture easily.

What does it mean when someone smells like maple syrup?

Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup.

Which test is positive in maple syrup urine disease?

A urine analysis can detect a high concentration of keto acids, and a blood test can detect a high level of amino acids. The diagnosis of MSUD also can be confirmed with an enzyme analysis of white blood cells or skin cells.

Can MSUD be detected during pregnancy?

Prenatal testing for MSUD can be done as early as 10-12 weeks of pregnancy. Genetic counselling to discuss the benefits of prenatal testing options in more detail is recommended. Unaffected siblings of a child with MSUD have a 2/3 chance of being carriers.

Can maple syrup urine disease be cured?

How Is Maple Syrup Urine Disease Treated? The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. Babies with MSUD must be on a special formula as soon as possible. Then, they’ll follow the special diet for the rest of their lives.

Can maple syrup urine disease go undetected?

While newborn screening programs allow for early detection of classic MSUD, cases of the intermittent form might go undetected, and present later in childhood following metabolic derailment, with an array of non-specific symptoms.

Can you survive MSUD?

If carefully treated with a low-protein diet, people with MSUD can live fairly normal lives. MSUD is caused by the lack of an enzyme needed to break down three amino acids: leucine, isoleucine, and valine, which are collectively known as the branched-chain amino acids.

Why does my baby smell like syrup?

Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with. It’s caused by a defect in the enzymes that break down some amino acids. Most newborn babies in the United States have their blood tested for MSUD as part of newborn screening.

Can maple syrup urine be diagnosed before birth?

Can people with MSUD have kids?

Females with MSUD are capable of having normal children, but need to adhere strictly to the diet and be monitored carefully, particularly postpartum, by metabolic geneticists. Without treatment, one can expect intellectual disability, neurologic disturbances, and early death.