Pyruvate carboxylase deficiency
Pyruvate Carboxylase Deficiency (pronunciation: py-roo-vate kar-box-i-lase deficiency) is a rare genetic disorder that affects the metabolism of the body. The condition is characterized by the body's inability to convert pyruvate, a key energy-producing molecule, into another molecule called oxaloacetate. This process is facilitated by the enzyme pyruvate carboxylase, which is deficient in individuals with this disorder.
Etymology
The term "Pyruvate Carboxylase Deficiency" is derived from the name of the enzyme that is deficient in this condition. "Pyruvate" is a key molecule in the body's energy production process, "carboxylase" refers to the type of enzyme, and "deficiency" indicates a lack or shortage.
Symptoms
The symptoms of Pyruvate Carboxylase Deficiency can vary widely among affected individuals. They may include developmental delay, failure to thrive, lactic acidosis, and neurological problems such as seizures and hypotonia (low muscle tone).
Diagnosis
Diagnosis of Pyruvate Carboxylase Deficiency is typically made through genetic testing, which can identify mutations in the PC gene that cause the disorder. Additional tests may include blood tests and urine tests to check for elevated levels of certain substances that can indicate the disorder.
Treatment
There is currently no cure for Pyruvate Carboxylase Deficiency. Treatment is supportive and aims to manage symptoms. This may include dietary modifications, medications to control seizures, and physical and occupational therapy to help with developmental delays.
Prognosis
The prognosis for individuals with Pyruvate Carboxylase Deficiency varies. Some individuals may have a relatively mild form of the disorder and live into adulthood, while others may have a more severe form and experience life-threatening complications in infancy or early childhood.
See Also
External links
- Medical encyclopedia article on Pyruvate carboxylase deficiency
- Wikipedia's article - Pyruvate carboxylase deficiency
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