maple syrup urine disease
TRANSCRIPT
PRINCIPLES IN BIOCHEMISTRYCASE STUDY 3
GROUP MEMBERSSITI MARDIAH BT
MOHD BAHARIUMMU AIMAN BT
ABDULLAHFASLIATIN BT
THAZALIDALILA BT AIDI
MASITAH BT MOHD NOOR
Emma and Jacob were so excited at the birth of their babyMatthew. But in the back of their minds, they really
worriedbecause their first child, Samuel, died at the age of 9 days.By the fifth day after birth, Matthew began to have troublenursing and by the seventh day he had completely stopped
feeding. Emma and Jacob were so frantic because itseemed to them that Matthew might also died. Emma and
Jacob rushed him to the Emergency Room. The examinationshowed no infection and his X-rays were normal. Emmainformed the doctor that Matthew’s diapers has funny
smells.Matthew’s urine did have sweet, maple syrup smell and
lab results revealed elevated levels of.......
CASE STUDY
WHAT IS MSUD?
one type of amino acid disorder
Maple syrup urine disease
Deficient in branched chain
α-keto acid dehydrogenase
(BCKD)
have problems breaking down
certain amino acids
found in protein
Valine, isoleucine,
leucine
OUR ESSENTIAL AMINO ACIDS!!!
LEUCINEISOLEUCINE
VALINE
• They are found in all foods that contain protein.
• Large amounts are found in meat, eggs, milk, and other
dairy foods. • Smaller amounts are found in flour, cereal, and in some
vegetables and fruits.
Branched-chain amino
acidsTree like structure
Isoluecine Luecine valine
Structure of branched-chain
amino acids
They cannot cannot be synthesized by the human body
They must be breakdown by BCKDC
• Isoleucine
• Leucine
• Valine
+
α-ketoglutara
te = 3 α-keto acids
3 α-keto acids
3 different coA
Oxidised by BCKD
leucine-> isovaleryl-coAIsoleucine -> alpha-methylbutyryl-coAValine-> isobutyryl-coA
THE DIFFERENCES
• Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of amino acid metabolism.
• MSUD is caused by a deficiency of the branch-chain alpha-keto acid dehydrogenase complex (BCKDC).
• The deficiency of BCKDC causing the accumulation of valine, leusine and isoleusine in blood and urine which leads to the serious medical problem.
• Keeping MSUD under control requires careful monitoring of blood chemistry and involves both a special diet and frequent testing
CONCLUSION