Description
Maple Syrup Urine Disease is a disease of the Whole Body.
The Genetic disorder caused by the deficiency of an Enzyme, which causes damage to the Nervous System.
In this, the Body is unable to break down three Amino Acids that is, Leucine, Isoleucine, and Valine. Amino Acids are the remaining material after the Digestion of proteins. With the help of Enzymes, the Amino Acids are broken down and used in the form of energy. If those specific enzymes are absent, then these Amino acids build up in the body. The level of Amino acids increase in the Blood that may cause Brain Degeneration and Neurological Disorders.
The mutations in BCKDHA, BCKDHB, DBT and DLD Genes develop Maple Syrup Urine Disease.
Causes of Maple Syrup Urine
Mutation in the Genes
If not treated properly, Maple Syrup Urine may cause
Coma
Death
Neurological Damage