Maple Syrup Urine Disease Types 1A & 1B (part of Ashkenazi Jewish FlexPanel)
Maple Syrup Urine Disease (MSUD) Types 1A and 1B are characterized in an infant by the presence of sweet-smelling urine, with an odor similar to that of maple syrup. Infants with this disease seem healthy at birth but if left untreated suffer severe brain damage, and eventually die.
PrintMaple Syrup Urine Disease (MSUD) Types 1A and 1B are characterized in an infant by the presence of sweet-smelling urine, with an odor similar to that of maple syrup. Infants with this disease seem healthy at birth but if left untreated suffer severe brain damage, and eventually die.
Treatment consists of a strict, lifelong special diet to attempt to control the accumulation of amino acids in the blood. MSUD is an autosomal recessive disorder caused by mutations in the BCKDHA (Type 1A) and BCKDHB (Type 1B) genes. It occurs more frequently in the Ashkenazi Jewish population, where the carrier rate is 1 in 80.
Ashkenazi Jewish individuals with a negative family history who test negative for the Y438N mutation in BCKDHA and the R183P, E372X and G278S mutations in BCKDHB have a revised carrier risk of 1 in 1,580.
Analysis of the Y438N mutation in BCKDHA and the R183P, E372X and G278S mutations in BCKDHB by pyrosequencing. This test can be ordered as part of the Ashkenazi Jewish FlexPanel.
The mutation detection rate in the Ashkenazi Jewish population is >95%.