Carnitine Palmitoyltransferase, Type I (CPT-1A)

Conditions

About

Carnitine palmitoyltransferase, Type I (CPT-1A) is a condition in which the body is unable to break down certain fats. People affected with CPT-1A are unable to change some of the fats eaten and stored in the body into the energy the body needs to function. This can cause too many unused fatty acids to build up in the body.  Signs of CPT-1A usually start between 8 and 18 months. Signs of CPT-1A include sleeping longer or more often, behavior changes, irritability, poor appetite, fever, diarrhea, vomiting, low blood sugar, difficulty breathing, and seizures. Many of these signs may occur when a baby eats foods that the body cannot break down. Detecting the condition early and beginning treatment can often prevent the severe outcomes of CPT-1A. 

Condition Type:
Frequency:

Carnitine palmitoyltransferase, Type I is a rare condition; fewer than 50 affected individuals have been identified. This condition may be more common in the Hutterite and Inuit populations.

More Information for Parents:
Also known as:
  • Carnitine palmitoyltransferase, Type I
  • Carnitine palmitoyltransferase deficiency type 1A
  • CPT-1A
  • Arctic variant CPT-1A

Core Conditions

Organic Acid
Other
Fatty Acid Oxidation
Amino Acid
Endocrine
Hemoglobin

Secondary

Amino Acid
Fatty Acid Oxidation
Organic Acid
Hemoglobin
Other