About Classic maple syrup urine disease
What is Classic maple syrup urine disease?
Classic maple syrup urine disease (MSUD) is an inherited metabolic disorder caused by a deficiency of the enzymes needed to break down certain amino acids. It is characterized by the presence of maple syrup-like odor in the urine, as well as mental retardation, seizures, and coma. It is a rare disorder, affecting only 1 in 185,000 newborns.
What are the symptoms of Classic maple syrup urine disease?
The classic symptoms of maple syrup urine disease (MSUD) include:
-Unusual body odors (maple syrup-like smell)
-Liver and/or kidney failure
-Hypoglycemia (low blood sugar)
-Hyperammonemia (high levels of ammonia in the blood)
What are the causes of Classic maple syrup urine disease?
Classic maple syrup urine disease (MSUD) is caused by a genetic mutation in the BCKDHA, BCKDHB, and DBT genes. These genes are responsible for producing enzymes that are necessary for breaking down certain amino acids. When these enzymes are not produced, the amino acids accumulate in the body, leading to the symptoms of MSUD.
What are the treatments for Classic maple syrup urine disease?
The primary treatment for classic maple syrup urine disease is a strict diet that is low in branched-chain amino acids (BCAAs). This diet should be started as soon as possible after diagnosis and should be continued for life. Other treatments may include supplements of vitamins and minerals, medications to reduce ammonia levels, and enzyme replacement therapy. In some cases, a liver transplant may be necessary.
What are the risk factors for Classic maple syrup urine disease?
1. Genetic predisposition: Classic maple syrup urine disease is an inherited disorder caused by mutations in the BCKDHA, BCKDHB, and DBT genes.
2. Ethnicity: Classic maple syrup urine disease is most common in people of Mennonite, Amish, and French-Canadian descent.
3. Family history: People with a family history of classic maple syrup urine disease are at an increased risk of developing the disorder.
4. Premature birth: Babies born prematurely are at an increased risk of developing classic maple syrup urine disease.
Is there a cure/medications for Classic maple syrup urine disease?
Yes, there is a cure for classic maple syrup urine disease. Treatment typically involves a combination of dietary management, medications, and supplements. Dietary management involves avoiding foods that are high in branched-chain amino acids, such as dairy products, eggs, and certain meats. Medications such as carnitine and biotin may be prescribed to help the body break down and use the branched-chain amino acids. Supplements such as thiamine and vitamin B6 may also be recommended.