What are the other Names for this Condition? (Also known as/Synonyms)

• Carnitine Palmitoyltransferase 1A Deficiency Disorder
• Hepatic Carnitine Palmitoyl Transferase 1 Deficiency Disorder
• L-CPT1 Deficiency Disorder

What is Carnitine Palmitoyl Transferase 1 Deficiency Disorder? (Definition/Background Information)

• Carnitine Palmitoyl Transferase I Deficiency Disorder (CPT1A Deficiency Disorder) is an inherited metabolic condition that prevents the body from converting certain fats  (long-chain fatty acids) into energy, particularly during periods without food
• Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy
• Symptoms of this condition often appear early in life and include low blood sugar (hypoglycemia) and low levels of ketones, which are produced when the body breaks down fat for energy (hypoketotic hypoglycemia). This can lead to a greater risk for loss of consciousness or seizures
• People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, nervous system damage, and elevated levels of carnitine in blood
• CPT1A Deficiency Disorder is caused by mutations in the CPT1A gene and is inherited in an autosomal recessive manner
• Although there is no cure for CPT1A Deficiency Disorder, symptoms can be managed using several strategies, such dietary changes and use of fat supplements

(Source: Carnitine Palmitoyl Transferase 1 Deficiency Disorder; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Carnitine Palmitoyl Transferase 1 Deficiency Disorder? (Age and Sex Distribution)

• Carnitine Palmitoyl Transferase 1 Deficiency Disorder is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Carnitine Palmitoyl Transferase 1 Deficiency Disorder? (Predisposing Factors)

• A positive family history may be an important risk factor, since Carnitine Palmitoyl Transferase 1 Deficiency Disorder can be inherited
• Currently, no risk factors have been clearly identified for this deficiency disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Carnitine Palmitoyl Transferase 1 Deficiency Disorder? (Etiology)

• Carnitine Palmitoyl Transferase I Deficiency Disorder is caused by mutations in the CPT1A gene and is inherited in an autosomal recessive manner

(Source: Carnitine Palmitoyl Transferase 1 Deficiency; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Carnitine Palmitoyl Transferase 1 Deficiency Disorder?

The signs and symptoms of Carnitine Palmitoyl Transferase 1 Deficiency Disorder may include:

Very frequently present symptoms in 80-99% of the cases:

• Behavioral abnormality
• Elevated hepatic transaminases
• Fatigue
• Hepatic failure
• Hypoglycemia
• Muscular hypotonia
• Neurological speech impairment
• Seizures
• Skeletal muscle atrophy

Frequently present symptoms in 30-79% of the cases:

• Coma
• Hemiplegia/hemiparesis
• Hepatomegaly
• Lethargy
• Loss of consciousness
• Transient hyperlipidemia

Occasionally present symptoms in 5-29% of the cases:

• Hypertrophic cardiomyopathy
• Renal tubular acidosis
• Sudden cardiac death

(Source: Carnitine Palmitoyl Transferase 1 Deficiency; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Carnitine Palmitoyl Transferase 1 Deficiency Disorder Diagnosed?

Carnitine Palmitoyl Transferase 1 Deficiency Disorder is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Carnitine Palmitoyl Transferase 1 Deficiency Disorder?

The complications of Carnitine Palmitoyl Transferase 1 Deficiency Disorder may include:

• Coma
• Severe heart and liver abnormalities
• Sudden cardiac death (in some cases)

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Carnitine Palmitoyl Transferase 1 Deficiency Disorder Treated?

Treatment of Carnitine Palmitoyl Transferase 1 Deficiency Disorder usually involves the support of a metabolic specialist and a dietician familiar with CPT1A deficiency. Treatment may differ depending on severity of symptoms and may be life-long if necessary. The treatment may include:

• Avoidance prolonged fasting/going a long time without food
• Incorporation of a low-fat, high carbohydrate diet
• Use of medium chain triglyceride oil (special type of oil made up of medium chain triglycerides - a type of fatty acid)

Children with CPT1A Deficiency Disorder may require additional care during illness to avoid metabolic crises. Call your healthcare provider should symptoms of an illness occur such as poor appetite, low energy or excessive sleepiness, vomiting, diarrhea, or fever.

(Source: Carnitine Palmitoyl Transferase 1 Deficiency; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Carnitine Palmitoyl Transferase 1 Deficiency Disorder be Prevented?

• Currently, Carnitine Palmitoyl Transferase 1 Deficiency Disorder may not be preventable, since it is a genetic disorder
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Carnitine Palmitoyl Transferase 1 Deficiency Disorder? (Outcomes/Resolutions) 

• The prognosis of Carnitine Palmitoyl Transferase 1 Deficiency Disorder is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Carnitine Palmitoyl Transferase 1 Deficiency Disorder:

Carnitine Palmitoyl Transferase 1 Deficiency Disorder is also known by the following names:

• Carnitine Palmitoyl Transferase IA Deficiency Disorder
• CPT1A Deficiency Disorder
• Hepatic Carnitine Palmitoyl Transferase I Deficiency Disorder
• Hepatic Carnitine Palmitoyltransferase 1 Deficiency Disorder
• Hepatic CPT1 Deficiency Disorder
• L-CPT 1 Deficiency Disorder
• L-CPTI Deficiency Disorder

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/