PHENYLKETONEURIA, SYMPTOMS, DIAGNOSTIC TESTS, PHARMACOGENOMICS, TREATMENTS, MEDICATIONS

 

DEFINITION:

“ Phenylketonuria (PKU) is an inborn error of metabolism involving impaired metabolism of phenylalanine, one of the amino acids. Phenylketonuria is caused by absent or virtually absent phenylalanine hydroxylase (PAH) enzyme activity.”


 EXPLAINATION:

·         Protein-rich foods or the sweetener aspartame can act as poisons for people with phenylketonuria.

·         The role of PAH is to break down excess phenylalanine from food.

·          Phenylalanine is a necessary part of the human diet and is naturally present in all kinds of dietary protein.

·         It is also used to make aspartame, known by the trade name Nutrasweet, which is used to sweeten low-calorie and sugar free soft drinks, yogurts, and desserts.

·         In people without PKU, the PAH enzyme breaks down any excess phenylalanine from these sources beyond what is needed by the body.

·          However, if there is not enough of the PAH enzyme or its cofactor, then phenylalanine can build up in the blood and brain to toxic levels, affecting brain development and function.

·          PKU is rare, but important to identify, because if caught early it is very treatable.

·         It is not contagious, and it is lifelong, but with early diagnosis and consistent treatment, the damaging effects can be minimal or non-existent.

·         Untreated PKU can lead to intellectual disability, seizures and other serious medical problems.

  DIAGNOSTIC  TESTS:

Following tests are used to diagnose genetic diseases are as follows :

v NEWBORN  SCREENING:

      Newborn screening is used just after birth to identify genetic disorders that can

       be treated early in life. A blood sample is collected with a heel prick from the

       newborn 24–48 hours after birth and sent to the lab for analysis.

v  PHARMACOGENOMICS:

When a person has a disease or health condition, pharmacogenomics can examine an individual’s genetic makeup to determine what medicine and what dosage would be the safest and most beneficial to the patient. 

v AMNIOCENTESIS:

      Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical

      procedure  used in prenatal diagnosis.

  SYMPTOMS:

The symptoms of phenylketoneuria are as follows :

·         Intellectual disabilities or mental retardation

·         Seizures.

·         Tremors or jerky hand and leg movements.

·         Hyperactivity.

·         Stunted growth.

·         Eczema.

·         A distinct odour in breath, skin, or urine that is often described as musty.

 CROSS BETWEEN CARRIER FATHER AND MOTHER:

    If both father and mother are carrier of phenylketoneuria , then result will be

TREATMENTS  

The ways to treat phenylketoneuria are as follows :

·         A lifetime diet with very limited intake of protein such as :

ü  Milk

ü  Eggs

ü  Cheese

ü  Nuts

ü  Soybeans

ü  Beans

ü  Chicken

ü  Beef

ü  Pork

ü  Fish

·         Taking a PKU formula — a special nutritional supplement — for life to make sure you get enough essential protein (without phenylalanine) and nutrients that are crucial for growth and general health.

·         Regular review of diet records, growth charts and blood levels of phenylalanine

·         Frequent blood tests that monitor PKU  levels as they change over time, especially during childhood growth spurts and pregnancy.

·         Other tests that may be done to assess growth, development and health.

·         Children and adults also need to avoid certain other foods and beverages, including :

Ø  Sugar substitutes – such as artificial sweeteners often used in tea and coffee

Ø  Diet versions of fizzy drinks

Ø  Chewing gum

Ø  Squashes and cordials

    MEDICATION:

The Food and Drug Administration (FDA) has approved the drug sapropterin (Kuvan) for the treatment of PKU. It works by increasing your tolerance to phenylalanine

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