MSUD Flashcards
1
Q
What TYPE OF MUTATION is Maple Syrup Urine Disease?
A
Autosomal recessive
2
Q
What are the TWO MUTATION GENES in the Branched-chain alpha-keto acid Dehydrogenase (BCKD) enzyme complex?
A
• BCKDHA - Chromosome 19
• BCKDHB - Chromosome 6
3
Q
What is the MUTATION GENE of the Dihydrolipoamide Branched Chain Transacylase E2 (DBCT-E2)?
A
• DBT - Chromosome 1
• Leucine, Isoleucine, Valine, and their oxoacids accumulate in body fluids
4
Q
What are the manifestations in the Maple Syrup Urine Disease?
A
• Sweet-smelling urine
• Erratic behavior and moods
• Hallucinations
• Anorexia
• Seizures
5
Q
What year was the Enactment of the Newborn Screening Act of 2004?
A
April 6, 2004
6
Q
What year was the Signing of the Implementing Rules and Regulation of RA 9288?
A
October 5, 2004
