Which are the symptoms of Systemic Primary Carnitine Deficiency?

Symptoms of Systemic Primary Carnitine Deficiency

Systemic Primary Carnitine Deficiency (SPCD) is a rare genetic disorder that affects the body's ability to transport long-chain fatty acids into the mitochondria, where they are used as a source of energy. This deficiency is caused by mutations in the SLC22A5 gene, which encodes the protein responsible for transporting carnitine into cells.

1. Muscle Weakness and Fatigue: One of the most common symptoms of SPCD is muscle weakness and fatigue. Individuals with this condition may experience difficulty in performing physical activities and may tire easily.

2. Cardiac Involvement: SPCD can also affect the heart muscles, leading to various cardiac symptoms. These may include an irregular heartbeat (arrhythmia), chest pain, and even heart failure in severe cases. Cardiac involvement can be life-threatening and requires immediate medical attention.

3. Hypoglycemia: Another symptom of SPCD is low blood sugar levels (hypoglycemia). This occurs due to the impaired breakdown of fatty acids, which are an important energy source for the body. Hypoglycemia can cause symptoms such as dizziness, confusion, sweating, and fainting.

4. Liver Dysfunction: SPCD can also affect liver function. Individuals with this condition may experience hepatomegaly (enlarged liver), elevated liver enzymes, and abnormal liver function tests. Liver dysfunction can lead to jaundice, poor appetite, and abdominal pain.

5. Growth Delay: Children with SPCD may exhibit growth delay, both in terms of height and weight. This can be attributed to the energy deficiency caused by the impaired transport of fatty acids into cells.

6. Muscle Cramps: Muscle cramps and pain are common symptoms in individuals with SPCD. These cramps can occur during physical activity or even at rest.

7. Cardiomyopathy: SPCD can lead to the development of cardiomyopathy, a condition characterized by the weakening of the heart muscle. This can result in symptoms such as shortness of breath, fatigue, and swelling of the legs and ankles.

8. Metabolic Acidosis: Metabolic acidosis is a condition where there is an imbalance in the body's acid-base levels. In SPCD, the impaired breakdown of fatty acids can lead to the accumulation of acidic byproducts, causing metabolic acidosis. Symptoms may include rapid breathing, confusion, and lethargy.

9. Reye-like Syndrome: In rare cases, individuals with SPCD may develop a condition similar to Reye syndrome. This is characterized by liver dysfunction, brain swelling, and altered mental status.

10. Other Symptoms: Additional symptoms of SPCD may include low muscle tone (hypotonia), developmental delays, intellectual disability, and skeletal abnormalities.

It is important to note that the severity and specific symptoms of SPCD can vary widely among affected individuals. Some individuals may have mild symptoms, while others may experience more severe manifestations of the disorder.