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epidemiology

Maple Syrup Urine Disease affects 1 in 185,000 births in the United States. It is rare in this population, but it is very prominent in Old Order Mennonite populations, French-Canadian populations, and Ashkenazi Jewish populations. For Old Order Mennonites, the prevalence is 1 in 380 births. In Ashkenazi Jews, the prevalence is 1 in 97 births. It is unknown what the prevalence is in the French-Canadian population, but it is more prominent because they have similar genes considering the founder effect, and the inbreeding that occurred.

https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease#statistics

http://www.jewishgeneticdiseases.org/diseases/maple-syrup-urine-disease/

http://www.perinatalservicesbc.ca/Documents/Screening/Newborn-HCP/MSUD3.pdf

https://blog.23andme.com/health-traits/french-canadian-ancestry-and-relevant-health-conditions/

Intermittent Maple Syrup Urine Disease: Growing up, children with this form of MSUD will develop normally. They are able to eat a normal diet including normal levels of leucine, unlike classic or intermediate MSUD. Under normal life conditions The lab values for a person with Intermittent MSUD would include normal levels of Urine organic acids, and normal plasma amino acid levels in the blood.They can potentially have a slightly elevated level of Branched chain amino acids such as Leucine, Isoleucine,and Valine. Under abnormal conditions, such as times of physiological stress or bodily infection, the classic signs of MSUD will surface and can potentially be lethal.

Thiamine-Responsive MSUD Those with Thiamine-Responsive MSUD do not usually show symptoms of this disease in the neonatal period, or even at an early age. This is normally seen later in life and has symptoms similar to Intermediate MSUD. This specific form of MSUD can be maintained with Thiamine supplementation and restriction of branched chain amino acids.