Class notes
Phenylketonuria
- Course
- Institution
Lecture notes on Phenylketonuria
[Show more]
Seller
Follow
polinalobacheva
Reviews received
Content preview
Inherited disorders:- Absence of protein ex agammaglobulinemia
- Abnormal protein ex sickle cell anaemia
- Defective receptors ex familial hypercholesterolaemia
- Defective carrier proteins ex cystinuria
- Absence of enzyme ex phenylketonuria
Treatment strategy for inherited disorders:
- Supply missing product
- Restrict intake of substrate
- Increase excretion of toxic products
- Replace the missing enzyme
- Replace the abnormal gene
Phenylketonuria:
- autosomal recessive inheritance
- Incidence: 1:10000 birth
- Deficiency: phenylalanine hydroxylase
Functions of Tyrosine - Used to synthesise: Clinical features of PKU:
- Tissue proteins - Vomiting
- Melanin - Irritability
- Thyroxine - Poor feeding
- catecholamines - Pale skin
- - Eczema
Hyperphenylalaninemia - high serum [phenylalanine] causes brain damage by: - Blue eyes
- Interfering with brain amino acid metabolism - Fair hair
- Inhibition of neurotransmitter release - Mental retardation
Diagnosis of PKU:
- (High) serum [phenylalanine] > 700 umol/L (normal < 100umol/L)
Management of PKU:
- Restrict dietary intake of phenylalanine
- Ensure adequate tyrosine intake
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller polinalobacheva. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $13.05. You're not tied to anything after your purchase.
Can Stuvia be trusted?
4.6 stars on Google & Trustpilot (+1000 reviews)
67232 documents were sold in the last 30 days
Founded in 2010, the go-to place to buy study notes for 14 years now