What enzyme is deficient in maple syrup urine disease?

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of an enzyme complex (branched-chain alpha-keto acid dehydrogenase) that is required to break down (metabolize) the three branched-chain amino acids (BCAAs) leucine, isoleucine and valine, in the body.

When does maple syrup urine disease occur?

Symptoms typically appear in children between the ages of 5 months and 7 years. Intermittent: Children with intermittent MSUD develop as expected until an infection or period of stress cause symptoms to appear.

What is maple syrup urine disease symptoms?

Symptoms of maple syrup urine disease

• sweet-smelling urine and sweat.
• poor feeding or loss of appetite.
• weight loss.

What are some facts about maple syrup urine disease?

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.

Why does my body smell 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.

How is maple syrup urine disease treated?

The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs).

Why does my husband smell like maple syrup?

Why does my pee smell like maple syrup?

Q: Why does my urine smell like maple syrup? A: If you notice a very distinct sweet smell as you urinate, this could mean one of two things: maple syrup urine disease or diabetic ketoacidosis (DKA). Maple syrup urine disease is a metabolic disorder that causes certain amino acids to build up in the body.

Why do I smell like maple syrup?

Why does my girlfriend smell like maple syrup?

What is the treatment strategy in maple syrup urine disease?

Protein-Restrictive Diet. A protein-restrictive diet is the first course of treatment most doctors recommend for maple syrup urine disease.

What are the best treatments for maple syrup urine disease?

Treatment . The main treatment for maple syrup urine disease is the restriction of dietary forms of the three amino acids leucine, isoleucine, and valine.   These dietary restrictions must be lifelong. There are several commercial formulas and foods for individuals with MSUD.

Does maple syrup urine disease have a cure?

Their metabolism corrected itself and began to break down the amino acids as it was meant to. A transplant is successful when it cures the disease and allows the child to eat an unrestricted diet. This is the only known cure for maple syrup urine disease.

What can cause maple syrup smelling urine?

The urine of people with this condition can smell like maple syrup. Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a defect in 1 of 3 genes. People with this condition cannot break down the amino acids leucine, isoleucine, and valine.