SBK 3013 PRINCIPLE IN BIOCHEMISTRY

GROUP MEMBERS: AZIREN SANTHARAN (D20091035141) TUAN ZAKIAH TUAN MAHMOOD (D20091035112) NOR FAZILAH ZAINUL (D20091035128) NURUL IZZATI MUSA (D20091035121)

A Sickeningly sweet baby boy

CASE 3

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 22 Discuss the case.

Poor appetite High pitched cry

SYMPTOMS

Urine that smell like maple syrup or burn sugar

Weight loss

Weak suck

Is it Dangerous???

Without treatment, brain damage can occur. This can cause mental retardation or spasticity. Some babies become blind. If not treated, most babies die within a few months.

Further Investigation
Babies are tested through newborn screening for MSUD before they leave the hospital. The babys heel is pricked and a few drops of blood are taken. The blood is sent to the state laboratory to find out if it has more than a normal amount of BCAAs.

Oh NO!!!!!!

more than a normal amount of BCAAs have been detected!!!! =(

WHAT IS BCAAs??
Leucine, isoleucine, and valine are called branched-chain amino acids (BCAAs) because of their tree-like structure. They are found in all foods that contain protein

What are the disease?? MSUD

MSUD stands for maple syrup urine disease. It is named for the sweet maple syrup smell of the urine in untreated babies. This condition is one type of amino acid disorder. People with MSUD have problems breaking down certain amino acids found in protein.

What are the causes of MSUD?

In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids. Special enzymes then make changes to the amino acids so the body can use them. Classic MSUD, the most common form, is caused by the absence of a group of enzymes called branched-chain ketoacid dehydrogenase (BCKAD). The job of this enzyme group is to break down three different amino acids called leucine, isoleucine and valine. When they cannot be broken down, these amino acids build up in the blood and cause problems.

People with MSUD have a mutation in the chromosome 19 that encode for the production of enzyme BCKD complex.

These enzymes break down the BCAAs.

When there is an alteration in these genes, enzyme levels go down and BCAAs build up in the blood stream.

How is MSUD Inherited?

MSUD is inherited in an autosomal recessive manner. It affects both boys and girls equally. When both parents are carriers, there is a 25% chance in each pregnancy for the child to have MSUD. There is a 50% chance for the child to be a carrier, just like the parents. And, there is a 25% chance for the child to have two working genes. These chances are the same in each pregnancy with the same parents

 Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly. Protein is made up of smaller building blocks called amino acids. A number of different enzymes are needed to process these amino acids for use by the body. Because of missing or non-working enzymes, people with amino acid disorders cannot process certain amino acids. These amino acids, along with other toxic substances, then build up in the body and cause problems.