Pyruvate dehydrogenase deficiency

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Pyruvate Dehydrogenase Deficiency (pronunciation: py-roo-vate de-hydro-gen-ase deficiency) is a rare genetic disorder that affects the metabolism of the body. It is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals.

Etymology

The term "Pyruvate Dehydrogenase Deficiency" is derived from the name of the enzyme that is deficient in this condition, the Pyruvate Dehydrogenase Complex (PDC). Pyruvate is a critical molecule in biochemistry, and dehydrogenase refers to the type of enzyme that removes hydrogen from its substrate.

Symptoms

Symptoms of Pyruvate Dehydrogenase Deficiency can vary widely among affected individuals. Common symptoms include developmental delay, neurological dysfunction, poor muscle tone (hypotonia), abnormal eye movements, and seizures. Some affected individuals may also have unusual facial features, which can include a high forehead, short nose, and full cheeks, closely spaced eyes, and thin upper lip.

Causes

Pyruvate Dehydrogenase Deficiency is caused by mutations in the PDHA1 gene. This gene provides instructions for making a protein that is critical for normal functioning of the Pyruvate Dehydrogenase Complex. Mutations in the PDHA1 gene disrupt the normal functioning of this complex, leading to the symptoms of Pyruvate Dehydrogenase Deficiency.

Diagnosis

Diagnosis of Pyruvate Dehydrogenase Deficiency is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests can include blood tests, urine tests, and detailed imaging studies.

Treatment

Treatment of Pyruvate Dehydrogenase Deficiency is directed toward the specific symptoms that are apparent in each individual. Treatment may include regular monitoring of lactic acid levels, dietary therapy, and other medical or surgical treatments.

See Also

External links

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