About cpt deficiency

What is cpt deficiency?

Carnitine palmitoyltransferase 1A deficiency (CPT1A) is characterized by a sudden onset of liver failure and damage to the nervous system resulting from liver failure (hepatic encephalopathy), usually associated with fasting or illness. CPT1A deficiency is caused by an abnormality (mutation) in the CPT1A gene that results in the production of an abnormally functioning carnitine palmitoyltransferase 1 enzyme and decreased metabolism of long-chain fatty acids. CPT1A deficiency is inherited as an autosomal recessive genetic disorder.

What are the symptoms for cpt deficiency?

Breakdown and weakness symptom was found in the cpt deficiency condition

Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.[5245] The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. The myopathic form is characterized by exercise-induced Muscle Pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue).

What are the causes for cpt deficiency?

Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern.

What are the treatments for cpt deficiency?

Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.

What are the risk factors for cpt deficiency?

Carnitine palmitoyltransferase I - CPT I deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.

  • Signs and symptoms of CPT I deficiency often appear during early childhood.
  • Affected individuals usually have low blood sugar (hypoglycemia) and a low level of ketones, produced during the breakdown of fats and used for energy.
  • Together these signs are called hypoketotic hypoglycemia.
  • Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
  • Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, seizures, coma, and sudden death.
  • Problems related to CPT I deficiency can be triggered by periods of fasting or by illnesses such as viral infections.
  • CPT I deficiency is a rare disorder; fewer than 50 affected individuals have been identified.
  • This disorder may be more common in the Hutterite and Inuit populations.
  • This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
  • The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms.
  • Muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis).
  • The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria).


Symptoms
Affected individuals usually have low blood sugar (hypoglycemia) and a low level of ketones,Temporary muscle pain, breakdown and weakness
Conditions
Hypoketotic hypoglycemia
Drugs
CPT enzyme supplements,Dietary changes

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