Pyruvate dehydrogenase deficiency

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Pyruvate dehydrogenase deficiency
Synonyms	PDH deficiency, PDCD
Pronounce
Specialty	Neurology, Genetics
Symptoms	Lactic acidosis, neurological dysfunction, developmental delay, microcephaly, seizures
Complications	N/A
Onset	Infancy or early childhood
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the PDHA1, PDHB, DLAT, DLD, or PDHX genes
Risks
Diagnosis	Genetic testing, blood tests for lactic acid levels
Differential diagnosis	Leigh syndrome, mitochondrial disorders
Prevention
Treatment	Ketogenic diet, thiamine supplementation, sodium bicarbonate for acidosis
Medication
Prognosis	Variable, often poor
Frequency	Rare
Deaths	N/A

Pyruvate dehydrogenase deficiency (PDHD) is a rare metabolic disorder that affects the enzyme pyruvate dehydrogenase. This enzyme is crucial for the process of glycolysis, which is the metabolic pathway that converts glucose into pyruvate. In individuals with PDHD, the body is unable to effectively convert glucose into energy, leading to a variety of symptoms and complications.

Symptoms

The symptoms of PDHD can vary widely between individuals, but often include neurological problems such as developmental delay, seizures, and ataxia. Other symptoms can include lactic acidosis, hypotonia, and microcephaly. The severity of symptoms can range from mild to severe, and the onset can occur at any age, from infancy to adulthood.

Causes

PDHD is caused by mutations in the PDHA1 gene, which provides instructions for making one part of the pyruvate dehydrogenase enzyme. These mutations prevent the enzyme from functioning properly, disrupting the process of glycolysis and leading to a buildup of pyruvate and lactate in the body.

Diagnosis

Diagnosis of PDHD is typically made through a combination of clinical examination, genetic testing, and biochemical testing. These tests can identify the presence of the PDHA1 gene mutation and the resulting enzyme deficiency.

Treatment

There is currently no cure for PDHD, but treatment can help manage symptoms and improve quality of life. Treatment options may include a high-fat, low-carbohydrate diet known as the ketogenic diet, which can help the body use alternative energy sources. Other treatments may include physical therapy, medications to control seizures, and other supportive therapies.

Prognosis

The prognosis for individuals with PDHD can vary widely, depending on the severity of symptoms and the individual's response to treatment. Some individuals may have a normal lifespan with appropriate management, while others may experience severe complications and a shortened lifespan.

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  Pyruvate dehydrogenase deficiency
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  Pyruvate dehydrogenase deficiency

See also

• Metabolic disorder
• Glycolysis
• Enzyme deficiency

References

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