Recent

Show all results for ""

🎧 New: AI-Generated Podcasts Turn your study notes into engaging audio conversations. Learn more

Feature Overview

Ace your exams with our all-in-one platform for creating and sharing quizzes and tests.

Quizzes

Create quizzes and tests automatically from your content using AI.

Flashcards

Automatically turn your notes into digital flashcards.

Share, Export & Embed

Share with classmates or export to Excel and your learning management system.

Stats & Reporting

Auto-grading quizzes and tests with detailed stats and reports.

Mobile Apps

The smarter way to study – wherever you are.

Pricing

Search...

7 Questions

0 Views

PKU

Created by

@SalutaryEmpowerment

Podcast Beta

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the incidence of PKU?

1 in 1,000,000 births

1 in 1,000 births

1 in 100,000 births

1 in 10,000 births (correct)

What causes PKU?

Deficiency of the hepatic enzyme phenylalanine hydroxylase (correct)

High levels of phenylalanine in the body

A genetic mutation in the PKU gene

Exposure to environmental toxins

How is PKU mostly detected?

By screening newborns for increased plasma levels of phenylalanine (correct)

By conducting genetic testing

By detecting phenyl pyruvate in urine

By observing physical symptoms in the patient

What are some symptoms of untreated PKU?

Skin rashes and lighter skin and hair color Signup and view all the answers

What is the treatment for PKU?

A special low-phenylalanine diet, medication, or supplements Signup and view all the answers

What medications are used to treat PKU?

Sapropterin dihydrochloride and Pegvaliase Signup and view all the answers

How can PKU be passed to children?

By two carrier parents who don't know they have the changed gene Signup and view all the answers

Study Notes

PKU is a metabolic disorder caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase.
It is inherited in an autosomal recessive pattern and has an incidence of 1 in 10,000 births.
PKU causes an accumulation of phenylalanine and its metabolites in the body, which can lead to various clinical and biochemical manifestations.
Symptoms of untreated PKU can include neurological problems, skin rashes, lighter skin and hair color, small head size, hyperactivity, intellectual disability, delayed development, and mental health disorders.
PKU is mostly detected by screening newborns for increased plasma levels of phenylalanine.
Diagnosis can also be confirmed by detecting phenyl pyruvate in urine.
Treatment for PKU is lifelong and may include a special low-phenylalanine diet, medication, or supplements.
Sapropterin dihydrochloride and Pegvaliase are two medications used to treat PKU.
Prenatal diagnosis of PKU can be done using cultured amniotic cells.
PKU can be passed to children by two carrier parents who don't know they have the changed gene.

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Description

Test your knowledge on Phenylketonuria (PKU), a rare metabolic disorder that affects approximately 1 in 10,000 newborns. This quiz will cover the causes, symptoms, diagnosis, and treatment of PKU, as well as the importance of prenatal screening and genetic counseling. Whether you're a healthcare professional or just interested in learning more about this condition, this quiz will challenge your understanding of PKU and its impact on patients and families.