|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal recessive inheritance||-|
|Congestive heart failure||-|
|Decreased carnitine level in liver||-|
|Decreased plasma carnitine||-|
|Elevated hepatic transaminases||-|
|Failure to thrive||-|
|Reduced muscle carnitine level||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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What is this? Why do I have it? I just had a baby and found out I had it. My sister also just had a baby and has it too. Will we be okay? See answer