maple syrup urine disease

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