Carrier Test Page
Save your life & Next Generation.
Maple syrup urine disease (MSUD) type II
What is Maple syrup urine disease (MSUD) type II?
Maple syrup urine disease is an inherited disorder named for the maple syrup or burned sugar smell from affected infants' urine and earwax. This disease is caused by lack of the enzyme (BCKAD) needed to process certain amino acids found in all foods containing protein. These amino acids and other substances build up in the blood and can cause serious damage to the brain. Infants affected by the most severe form of MSUD show poor feeding, vomiting, and lack of energy within the first several days of life. If untreated, death can occur within the first few months after birth. With early and lifelong treatment involving a special diet, individuals may develop normally and live a normal life span. However, despite careful treatment, there is an increased risk of learning problems, mental disability, and death. Infants with less severe forms of MSUD may appear normal at birth and have normal growth, but careful life and diet management is still critical to lifelong survival. MSUD is a condition that is tested for in states that have expanded newborn screening. MSUD type 1A is caused by pathogenic variants in the BCKDHA gene, making up the alpha subunit of the BCKAD enzyme. MSUD type 1B is caused by pathogenic variants in the BCKDHB gene, making up the beta subunit of the BCKAD enzyme. MSUD type II is caused by pathogenic variants in the DBT gene, making up the E2 subunit of the BCKAD enzyme.
How is Maple syrup urine disease (MSUD) type II inherited?
MSUD is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a mutation in the gene for a person to have the genetic disease. Both parents must be carriers of a mutation in the gene in order to be at risk to have an affected child. The child must inherit a mutation from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.
What does it mean to be a carrier?
There are generally no signs or symptoms associated with being a carrier for MSUD. Carriers are at an increased risk of having a child affected with MSUD. Testing of reproductive partners is recommended for carriers of MSUD.
How common is Maple syrup urine disease (MSUD) type II?
What is analysed?
|Ethnicity||Detection Rate||Carrier Frequency|
|General Population||75%||1 in 321|