Carnitine uptake defect
Carnitine Uptake Defect Carnitine uptake defect, also known as primary carnitine deficiency, is a rare metabolic disorder that affects the body's ability to transport carnitine into cells. This condition can lead to a variety of symptoms, including muscle weakness, hypoglycemia, and heart problems.
Carnitine uptake defect - overview[edit | edit source]
Carnitine is a substance that plays a crucial role in the transport of fatty acids into the mitochondria, where they are used to produce energy. In individuals with carnitine uptake defect, the transport of carnitine into cells is impaired, leading to a deficiency of carnitine within the cells and an accumulation of fatty acids in the blood.
Symptoms[edit | edit source]
The symptoms of carnitine uptake defect can vary widely among affected individuals. Common symptoms include:
- Muscle weakness: Due to the lack of energy production in muscle cells.
- Hypoglycemia: Low blood sugar levels, which can cause dizziness, confusion, and fainting.
- Cardiomyopathy: A condition where the heart muscle becomes weakened and enlarged.
- Fatigue: Generalized tiredness and lack of energy.
Diagnosis[edit | edit source]
Diagnosis of carnitine uptake defect typically involves:
- Blood tests: To measure the levels of carnitine in the blood.
- Genetic testing: To identify mutations in the SLC22A5 gene, which is responsible for the transport of carnitine.
- Urine tests: To check for the presence of excess fatty acids.
Treatment[edit | edit source]
Treatment for carnitine uptake defect usually involves:
- Carnitine supplementation: Oral carnitine supplements can help increase the levels of carnitine in the body.
- Dietary management: A diet low in long-chain fatty acids and high in medium-chain triglycerides may be recommended.
- Monitoring and management of symptoms: Regular follow-up with healthcare providers to monitor heart function and other symptoms.
Genetics[edit | edit source]
Carnitine uptake defect is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The SLC22A5 gene, located on chromosome 5, is responsible for the production of the carnitine transporter protein.
Prognosis[edit | edit source]
With early diagnosis and appropriate treatment, individuals with carnitine uptake defect can lead relatively normal lives. However, if left untreated, the condition can lead to serious complications, including heart failure and sudden death.
Research[edit | edit source]
Ongoing research is focused on better understanding the genetic basis of carnitine uptake defect and developing more effective treatments. Clinical trials are also exploring the use of gene therapy as a potential treatment option.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Carnitine uptake defect is a rare disease.
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Contributors: Prab R. Tumpati, MD
