Symptoms of MSUD

The severity of these symptoms increases from Thiamine-responsive MSUD to Classic MSUD.

As soon as a MSUD baby is fed protein, the symptoms will start.
Some of the first symptoms are:
• Poor appetite
• Unable to drink from milk bottle
• Loss of weight
• High-pitched cry
• Urine smelling of maple syrup or burnt sugar

Babies with MSUD have episodes of illness called metabolic crisis. Some of the first symptoms of a metabolic crisis are:
• Extreme sleepiness
• Lacking alertness or energy
• Gets irritated easily
• Vomiting

If not treated, other symptoms can follow:

• Muscle tones between rigid and floppy
• Brain Swelling
• Seizures
• High levels of acidic substances in the blood (Metabolic Acidosis)
• Coma (sometimes leading to death)

Symptoms of a metabolic crisis often happen:
• Being in a hungry state for too long
• Illness or Infection
• Stressful events (eg. surgery)

Reference:

http://flipper.diff.org/app/items/info/4499