DEFINITION
Pyruvate is a substance that is formed in the processing of
carbohydrates and protein, which serves as a source of energy for the body's
cells. Pyruvate metabolism disorders can limit the ability of cells to produce
energy and leads to accumulation of lactic acid.
CAUSE
Many enzymes involved in the metabolism of pyruvate.
Shortage of one of these enzymes can cause a variety of disorders, depending on
what the missing enzyme. This enzyme disorder is hereditary or lowered.
SYMPTOMS
The symptoms can appear at any time from infancy to
adulthood. Sports and infections may aggravate existing symptoms, causing
severe lactic acidosis.
- Pyruvate Dehydrogenase Complex Deficiency
This deficiency causes a variety of symptoms that vary, from
mild to severe. Some newborns with this disorder have a brain malformation.
Other children appear normal at birth, but then experienced symptoms such as
muscle weakness, seizures, poor coordination, and severe balance disorders in
infancy or childhood. Intellectual disorders are also common.
- Lack of pyruvate carboxylase
The enzyme pyruvate carboxylase deficiency is very rare.
This condition causes the disruption or obstruction of glucose production from
pyruvate. As a result of lactic acid and ketones accumulate in the blood. The
disease is often fatal. Children who survive may experience seizures and severe
intellectual impairment, although there are also children who suffered only
mild symptoms.
DIAGNOSIS
This disorder is diagnosed by measuring enzyme activity in
the cells of the liver or skin.
TREATMENT
- Pyruvate Dehydrogenase Complex Deficiency
This disorder can not be cured, but some children can be
helped by adjusting the diet that is high in fat and low in carbohydrates.
- Lack of pyruvate carboxylase
There is no treatment for this disorder, but some children
can be helped by adjusting the diet, which often eat carbohydrates and limit
the intake of protein.
REFERENCE
- Lee M Sanders. Disorders of Carbohydrate Metabolism. Merck
Manual. 2009.
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