Phenylketonuria Manual Metabolic disease is a broad term that is generally used

Question

Phenylketonuria Manual Metabolic disease is a broad term that is generally used to describe diseases that result trom enzyme deficiencies in either catabolic or biosynthetic pathways. When these enzyme deficiencies occur, there is not only a decrease in the products of the pathway, but the intermediates in the pathway also build up. Symptoms of metabolic disease occur from one or both of these biochemical causes. Often, the build-up and storage of the metabolic intermediates cause the major symptoms associated with these diseases. Phenylketonuria (PKU) is a metabolic disease that results from a deficiency in phenylalanine hydroxylase (PAH). This metabolic disease was one of the first to be well-characterized, and today is tested for in all newborns. In this module you will use web-based biotechnology tools to research how a genetic mutation in phenylalanine hydroxylase leads to the symptoms of PKU. In this module, you will be analyzing a cDNA sequence for a female patient who may be a carrier for deficient phenylalanine hydroxylase. She does not have PKU, but is concerned for her future children based on her family history. Obtain the sequence for this patient's cDNA from the course website under the file name shown below. Saved in FASTA format in file PAHmutseq" For your research project, you will analyze the mutant PAH protein using the bioinformatics tools presented in lab. You will investigate the structure of the PAH protein, model the mutation, and find out what is known, if anything, about the biological impact of the mutation. Through your studies, you will form a hypothesis about what the structural and Readings and Associated Questions Use your own web investigation, the posted "parent's guide to PKU" and the following link to answer these questions. Benarski, AE, Elgin C.R., Pakrasi, ?.?.," An Inquiry into Protein Structure and Genetic Disease: Introducing Undergraduates to Bioinformatics in a Large Introductory Course," Cell Biology Education, 4(3): 207-220, 2005. Bednarski, 2003. WUSTL

Explanation / Answer

1.Metabolic disease:

- A disorders that disrupt the process of normal metabolism which involve converting food to energy on a cellular level.

- Many number of enzymes play an importnat role in the metabolic pathways to carry out this process.

- It affects the ability of the cell to perform cellular biochemical reactions that involve the processing or transport of proteins (amino acids), carbohydrates (sugars and starches), or lipids (fatty acids).

- These kind of disease are hereditary and the patient looks healthy for months or years.

- symptoms usually seen during stress or febrile illness.

2. Prevented: Few changes need to be followed in order to prevent metabolic disease

a. exercise for 30-60 minutes

b. healthy diet with lots of fruits nad vegetables

c. quit smoking

d. lose weight if u are overweight

e. regular follow up with physician should be as these kind of disease does not show any symptoms.

3. severity of disease in each induvidual:

- Genetic factors influence each individual component of the syndrome, and the syndrome itself.

- A family history like type 2 diabetes, hypertension, and early heart disease greatly increases the chance that an individual will develop the metabolic syndrome.

- environmental factors like lifestyle and over weight gain contribute to the risk of the disease.

Related Questions

Navigate

• Browse (All)
• Browse P
• Subjects

---

---

Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.