Amish Diseases Maple Syrup Disease?

Can you die from maple syrup urine disease?

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

What are the symptoms of maple syrup urine disease?

Some initial symptoms characteristic of classic MSUD are:

  • lethargy.
  • poor appetite.
  • weight loss.
  • weak sucking ability.
  • irritability.
  • a distinctive maple sugar odor in earwax, sweat, and urine.
  • irregular sleep patterns.
  • alternating episodes of hypertonia (muscle rigidity) and hypotonia (muscle limpness)

What is the life expectancy of someone with maple syrup urine disease?

If untreated, life-threatening coma or respiratory failure could occur within 7 to 10 days and most will die within several months. Upon any lapse of treatment, classic MSUD can cause brain damage. People with the disease are particularly prone to crisis during illness, infection, fasting, or after surgery.

Can adults have maple syrup urine disease?

Is it possible for an adult to develop maple syrup urine disease? At times a peculiar maple syrup smell in the urine or sweat can occur in older, healthy children or adults who are non-symptomatic. The reason for this is unknown.

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