MOL125 - Lec 16-17

Which of the following is the most common inborn error of amino acid metabolism?

• Phenylketouria

• Maple Syrup Urine Disease

• Homocystinuria

• Albinism

• Alkaptonuria

A 6-year-old boy is presented to the clinic by her mother. She tells you that she feels like her son has some intellectual disability as he does not respond to things as she expects him to do so. Upon examination, the boy has blue eyes and also some rashes on skin. Given that he has phenylketouria, which statement would be correct?

• There is an excess accumulation of tyrosine.

• There is a lack of phenylalanine.

• Increased Dihyropterine reductase activity.

• Decreased phenylalanine hydroxylase activity.

• Sweetners such as Apartame should be added to the diet.

In phenylketonuria, there is hypopigmentation due to?

• Less tyrosine is being made which is responsible for producing melanin.

• More tyrosine is being made and which causes melanin to be used up.

• Less phenylalanine is being made which is responsible for producing melanin.

• More phenylalanine is being made which is responsible for producing melanin.

An 8-year-old girl comes with her dad to her clinic. Upon examination she has blue eyes and her dad tells you that she feels worse when she eats almonds and other dry fruits. Her dad also tells you that previously, they were recommended that they change her diet but this did not help that much. What should the girl be given for improving her condition?

• Vitamin D pills

• Giving her sources of phenylalanine hydroxylase

• Dihydropterine Reductase should be increased by giving Sapropterin

• Feed her foods rich in Phenylalanine

• Give her artificial sweeteners for getting a sweet taste

You see a young child playing outside with white skin and red eyes. If he has albinism, which enzyme is deficient?

• Tyrosinase

• Phenylalanine Hydroxylase

• DHPR

• ALT

Alkaptonuria is caused by a deficiency of?

• Tyrosinase

• DHPR

• Phenylalanine Hydroxylase

• Homogentisic Acid Oxidase

• AST

A mother of a 2-month-old infant brings her baby to the clinic. She tells you that she becomes worried whenever she changes her baby's diaper as there are abnormally dark stains on it. She tells you her baby has normal coloured eyes. What is likely the cause of the dark stains?

• Increased Phenylalanine in urine

• Increased Tyrosine in urine

• Increased Homogentisic Acid in urine

• Increased Melanin in urine

A father tells you that his son's urine turns into some weird black looking fluid on standing. You suspect the urine having increased levels of Homogentisic acid. What is likely the diagnosis?

• Albinism

• Alkaptonuria

• Phenylketonuria

• Organic acidemias

In Maple Syrup Urine Disease, the smell of the urine is like maple syrup. A rise in which amino acid is responsible for the maple syrup smell?

• Isoleucine

• Valine

• Leucine

• Tryptophan

• Tyrosine

A 69-year-old woman presents to the clinic with some sort of fruity smell coming from his mouth. He tells you that he was been vomiting since 2 days. What is most likely the condition the woman has?

• Maple Syrup Urine Disease

• Phenylalanine Hydroxylase Deficiency

• Tyrosine Overload

• Homogentisic Acid Overload