Carnitine Palmitoyl Transferase 1 Deficiency

Carnitine Palmitoyltransferase Deficiency Type 1

Overview

Type of disease: Rare conditions

Carnitine palmitoyltransferase I deficiency (CPT-IA) is a rare genetic condition. CPT-1A results from a mutation (error) in the CPT1A gene. People with CPT-1A cannot use certain fats into energy. Fats are broken down by enzymes (special proteins) into fatty acids. Fatty acids must be taken into the mitochondria of the cell to make energy. CPT-IA occurs when the body does not make enough working carnitine palmitoyltransferase 1A. This enzyme attaches long chain fatty acids to carnitine so they can be moved into the mitochondria. Long chain fatty acids are an important energy source for the liver and other tissues especially during fasting (such as sleep). In addition, fatty acids will build up in the body and become toxic, damaging to the heart, liver and muscles. CPT-1A may be mistaken as Reye syndrome.

Signs of CPT-1A begin to show between 8 and 18 months. Symptoms include sleeping longer or more often, behavior changes, irritability, poor appetite, fever, diarrhea, vomiting, low blood sugar, trouble breathing, or seizures. Without treatment, learning disabilities, developmental delays, and liver, heart and kidney problems may occur. Treatment includes a special diet. The supplement medium chain triglyceride (MCT) oil may be recommended. MCT oil contains fats that can be broken down by individuals with CACT to produce energy.

CPT-1A is autosomal recessive. With early treatment, children with CPT-1A amy have healthy growth and development. Many babies are screened at birth so treatment begins early, but the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor about the most current treatment options. Support groups are a good source of information. A genetic counselor will help you understand the genetics.

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