Maple syrup urine disease is a rare disorder in which the body fails to properly process certain amino acids, such as leucine, isoleucine and valine. which are present in foods such as milk, eggs, meat. Therefore, results in a buildup of these in the blood. It is called maple syrup due to its distinctive sweet odor of affected infant’s urine. MSUD can damage the brain when in physical stress, such as fever, infection, starving.
MSUD affects approximately 1 in 180,000 infants worldwide. A higher chance in children of Amish, Mennonite, and Jewish descent.
Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes work together as a complex; they give instructions for the production of proteins. The …show more content…
The parents with an autosomal recessive condition each carries one copy, but they usually don’t show any signs or symptoms.
There are four classification associated with MSUD:
Classic: the most popular type of MSUD. Here, little to no enzyme activity is present. Typically, less than 2% normal. Individuals with classic MSUD will show signs or symptom in the first few days of life. Protein must be restricted in one’s diet as they have poor tolerance for BCAAs.
Some individuals may develop a condition known as intracranial hypertension, when blood pressure is increased in the brain causes painful headaches that sometimes lead to nausea and vomiting.
Intermediate: has a higher level of enzyme activity than classic MSUD. Roughly 3%-8% normal. Individuals associated with this class typically can tolerate a greater amount of leucine. However, when experiencing physically stress like ill or fever, intermediate MSUD reacts the same as classic MSUD. Affected individuals may experience seizures and neurological impairment and developmental delays. Others may experience poor growth, odor of maple syrup in their earwax,
MSUD affects approximately 1 in 180,000 infants worldwide. A higher chance in children of Amish, Mennonite, and Jewish descent.
Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes work together as a complex; they give instructions for the production of proteins. The …show more content…
The parents with an autosomal recessive condition each carries one copy, but they usually don’t show any signs or symptoms.
There are four classification associated with MSUD:
Classic: the most popular type of MSUD. Here, little to no enzyme activity is present. Typically, less than 2% normal. Individuals with classic MSUD will show signs or symptom in the first few days of life. Protein must be restricted in one’s diet as they have poor tolerance for BCAAs.
Some individuals may develop a condition known as intracranial hypertension, when blood pressure is increased in the brain causes painful headaches that sometimes lead to nausea and vomiting.
Intermediate: has a higher level of enzyme activity than classic MSUD. Roughly 3%-8% normal. Individuals associated with this class typically can tolerate a greater amount of leucine. However, when experiencing physically stress like ill or fever, intermediate MSUD reacts the same as classic MSUD. Affected individuals may experience seizures and neurological impairment and developmental delays. Others may experience poor growth, odor of maple syrup in their earwax,