Definition of White blood cell count. White blood cell count (leukocyte count): The number of white blood cells (WBCs) in the blood. The WBC is usually measured as part of the CBC (complete blood count). White blood cells are the infection-fighting cells in the blood and are distinct from the red (oxygen-carrying) blood cells known as erythrocytes.
The disease is named for the presence of sweet-smelling urine, with an odor similar to that of maple syrup, when the person goes into metabolic crisis. The smell is also present and sometimes stronger in the ear wax of an affected individual at these times.
Specifically the dihydrolipoamide dehydrogenase gene (DLD). MSUD is a substitution (missense) mutation that effects the DLD gene. Symptoms of MSUD include loss of appetite, fussion, and sweet smelling urine (how it got its name).If MSUD continues to go untreated, it can result in seizures, going into a coma, mental retardation, and even death.nsertion and Deletion both result in an incomplete or non-funtional protein. Maple Syrup Urine Disease is cause by a mutation in the dihydrolipoamide dehydrogenase (DLD) gene. Mutations often effect the outside appearence, the part we see.