Signs and Symptoms of MSUD

What symptoms arise from MSUD?
Below is a chart from a study done in German of patients with Turkish descent. All nine patients had MSUD. The chart records their symptoms and how many days after they appeared.

Turkish Journal of Pediatrics: http://www.turkishjournalpediatrics.org/?fullTextId=206#

 

Also according to Healthline, there are some initial symptoms that appear when a baby is born that can point towards MSUD.

• For instance Healthline lists off:

• 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)
• high-pitched cry

These first early signs are also the first things that come up when searched in google.

Also according to Learn.Genetics symptoms might not be prevalent until three to four days after birth. So early signs can be the newborn screening test that would show increase levels of amino acids. Also later on a urine analysis can be obtained to tell that there are high amounts of amino acids in the urine.

Now...if left untreated the symptoms can progress and brain damage can occur. Some symptoms of progression include:

• seizures
• coma
• neurological damages
• death

It is always important to be looking for these signs especially if both parents are carriers of the mutated gene.

Food for thought...how many thought that MSUD merely caused metabolic problems and urine to smell like maple syrup? I did.
Comment below :) 

References:
Englert, C. (2013, May 7). Maple syrup urine disease: MedlinePlus Medical Encyclopedia. 
                 Retrieved  from https://www.nlm.nih.gov/medlineplus/ency/article/000373.htm 
Giorgi, A. (n.d.). Maple Syrup Urine Disease (MSUD). Retrieved from  
                 http://www.healthline.com/health/maple-syrup-urine-disease#Overview1   
Maple Syrup Urine Disease (MSUD). (n.d.). Retrieved from http://learn.genetics.utah.edu
                 /content/disorders/singlegene/msud/