MSUD also known as Branched chain ketoaciduria was discovered in 1954 by Dr. John Menkes as the inability to metabolize the branched chain amino acids (BCAA's) which would then build up and cause toxicity.
Actualmente mi bebé tiene 4 meses, al mes de nacida fue diagnosticada con jarabe de maple, no presentaba ningún síntoma salvo el resultado del tamiz, se le hizo también el ampliado y una espectometria de masas las cuales fueron positivas, la ...
Oliver was fiagnosed at 2 weeks, currently doing great!
here's our story: https://janybc.wordpress.com/2016/05/09/on-how-to-raise-my-son-olivers-msud-%E2%9D%A4%EF%B8%8F-2/
Hi all
my son has been diagnosed with Classic MSUD
Now he is 4 years old and he is going fine with the restrict dietary and frequently amino acids test
we are thinking about liver transplantation however our don's doctor didn't encourage us to do ...
My son Paul was born on 5th December 1988 fit and healthy, or so we thought. On 16th December he was diagnosed with acute maple syrup urine disease. He spent the first 3 months of his life in our local children's hospital. The first 3 weeks were on t...