Page Contents
OVERVIEW
This page is dedicated to organizing various examples of standardized exam questions whose topic is primary carnitine deficiency. While this may seem a odd practice, it is useful to see multiple examples of how primary carnitine deficiency will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a traditional question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a topic is quite valuable.
KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)
When it comes to standardized exams, each topic has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for primary carnitine deficiency.
- Muscle weakness: elevated creatine kinase may be present as well
- Cardiomyopathy: patients may have an S3 heart sound.
- Hopoketotic hypoglycemia
- Elevated muscle triglycerides
QUESTION EXAMPLES
Question # 1
Explanation # 1
Question # 2
Explanation # 2
TESTABLE FACTS ABOUT THIS TOPIC (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying topic. Often there are specific testable facts regarding some aspect of the topic’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:
- Cause: deficiency of carnithine. Defect tin the protein responsible for arnitine transport across the plasma membrane.
- Consequence of deficiency: fatty acids cannot be transported form the cytoplasm into the mitochondria (as acyl carnitine). As a result, the mitochondria can not beta-oxidize fatty acids into acetyl CoA.
- No ATP generation from fatty acids in the cardiac and skeletal mycoytes
- No ketone generation by the liver
Page Updated: 04.28.2017