tag:blogger.com,1999:blog-4082643038671225434.post4553340062833190285..comments2023-10-07T01:34:01.774-07:00Comments on Case of the Day: Burnt CaramelCraighttp://www.blogger.com/profile/17072102331564743101noreply@blogger.comBlogger2125tag:blogger.com,1999:blog-4082643038671225434.post-50168089722028445232008-02-25T09:14:00.000-08:002008-02-25T09:14:00.000-08:00Burnt CaramelThe infant has maple syrup urine dise...Burnt Caramel<BR/><BR/>The infant has maple syrup urine disease which is a deficiency of branched chain alpha keto acid dehydrogenase (the disease is also called branched chain ketoaciduria). This enzyme is necessary to break down branched chain amino acids leucine, isoleucine, and valine. This is an autosomal recessive metabolic disorder and is characterized by a sweet-smelling urine with an odor similar to maple syrup or burnt caramel. If untreated, patients may suffer severe brain damage. There is a higher prevalence in children of Amish or Mennonite descent (Christian Anabaptist denomination). Other symptoms include poor feeding, vomiting, lethargy, and seizures. Treatment includes a diet with minimal leucine, isoleucine, and valine. <BR/><BR/>Source: Wikipedia.Craighttps://www.blogger.com/profile/17072102331564743101noreply@blogger.comtag:blogger.com,1999:blog-4082643038671225434.post-88069247768633929122008-02-22T14:06:00.000-08:002008-02-22T14:06:00.000-08:00MSUDlooked it up and found amishwould've guessed a...MSUD<BR/>looked it up and found amish<BR/><BR/>would've guessed ashkanazi jew otherwise.Alexhttps://www.blogger.com/profile/06972701448751949861noreply@blogger.com