Maple Syrup Urine Disease Flashcards
1
Q
What are the symptoms of Maple Syrup Urine Disease?
A
Encephalopathy Urine smell like maple syrup Elevated BCAA levels Vomiting Metabolic crisis
2
Q
What genes are involved in Maple Syrup Urine Disease?
A
BCKDHA
BCKDHB
DBT
(Biallelic mutation in one of these genes)
3
Q
What is the inheritance pattern for Maple Syrup Urine Disease?
A
Autosomal recessive
4
Q
What is the phenotype of the heterozygous in Maple Syrup Urine Disease?
A
They are carrierrs.
Do not display symptoms
