Is maple syrup urine disease fatal?

If untreated, maple syrup urine disease can lead to seizures, coma, and death.

What is the mortality rate of maple syrup urine disease?

The most clinical symptoms were poor feeding, lethargy and smell of burnt sugar in the urine. The most patients were treated with MSUD special diets. Mortality rate was 81.8%.

What is the long term effect of maple syrup urine disease if left untreated?

If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension.

Can you get maple syrup urine disease later in life?

Some affected children may remain asymptomatic until later in life. Disease management principles are the same for both. Intermittent MSUD is usually characterized by normal growth and intellectual development and affected individuals often can tolerate normal levels of protein in their diet.

What happens to your body when you have maple syrup urine disease?

Maple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body cannot process certain amino acids (the “building blocks” of protein), causing a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein foods such as meat and fish into amino acids.

Is there a cure for maple syrup urine disease?

Treatment for maple syrup urine disease (MSUD) involves a protein -restricted diet and supplements. With early treatment, people with MSUD avoid many of the more severe symptoms. Guidelines exist for medical and diet management of people with MSUD. [1] [4] [5]

How are infants diagnosed with maple syrup urine disease?

Many infants with MSUD are identified through newborn screening programs. Tandem mass spectrometry, an advanced newborn screening test that screens for more than 30 different disorders through one blood sample, has aided in the diagnosis of MSUD.

Why does my urine smell like maple syrup?

The earwax and urine of infants with MSUD smells like maple syrup. The symptoms of other forms of MSUD start in adolescence or adulthood. MSUD is caused by genetic variants in the BCKDHA, BCKDHB, or DBT genes. It is inherited in an autosomal recessive pattern. Diagnosis of MSUD is based on the symptoms, clinical exam, and blood and urine testing.

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.

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.
• Thiamine Therapy.
• Intravenous Treatment.
• Liver Transplant.
• Pain Medication.

  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.