SITI MARDIAH BT MOHD BAHARI UMMU AIMAN BT ABDULL AH FASLIATIN BT THAZALI DALILA BT AIDI MASITAH BT MOHD NOOR

Emma and Jacob were so excited at the birth of their baby Matthew. But in the back of their minds, they really worried because their first child, Samuel, died at the age of 9 days. By the fifth day after birth, Matthew began to have trouble nursing and by the seventh day he had completely stopped feeding. Emma and Jacob were so frantic because it seemed to them that Matthew might also died. Emma and Jacob rushed him to the Emergency Room. The examination showed no infection and his X-rays were normal. Emma informed the doctor that Matthews diapers has funny smells. Matthews 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 -keto acid dehydrogena se (BCKD)

have problems breaking down certain amino acids found in protein

Valine, isoleucine, leucine

OUR ESSENTIAL AMINO ACIDS!!!

LEUCINE ISOLEUCINE 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.

Branchedchain amino acids Tree like structure

Structure of branchedchain amino acids

Isoluecine

Luecine

valine

They cannot cannot be synthesized by the human body They must be breakdown by BCKDC

 Isoleucine Leucine

+
Valine

ketoglutarat e

3 keto acids

3 -keto acids

Oxidised by BCKD

3 different coA

leucine-> isovaleryl-coA Isoleucine -> alpha-methylbutyryl-coA Valine-> isobutyryl-coA

THE DIFFERENCES

CONCL USION
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