Inborn errors of carbohydrate metabolism

Inborn errors of carbohydrate metabolism are a group of metabolic disorders that affect the body's ability to metabolize carbohydrates. These disorders are typically present from birth and are caused by genetic mutations that result in enzyme deficiencies. The disorders can lead to a variety of health problems, including hypoglycemia, lactic acidosis, and organomegaly.

Types of Inborn Errors of Carbohydrate Metabolism

There are several types of inborn errors of carbohydrate metabolism, including:

• Galactosemia: This disorder is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase, which is necessary for the metabolism of the sugar galactose. Symptoms can include jaundice, hepatomegaly, and cataracts.

• Fructose intolerance: This disorder is caused by a deficiency in the enzyme aldolase B, which is necessary for the metabolism of the sugar fructose. Symptoms can include hypoglycemia, jaundice, and vomiting.

• Glycogen storage diseases: These disorders are caused by deficiencies in various enzymes necessary for the metabolism of glycogen, a storage form of glucose. Symptoms can include hypoglycemia, hepatomegaly, and muscle weakness.

Diagnosis and Treatment

Diagnosis of inborn errors of carbohydrate metabolism typically involves genetic testing to identify the specific enzyme deficiency. Treatment typically involves dietary management to avoid the sugars that cannot be properly metabolized.

In some cases, enzyme replacement therapy may be used to provide the body with the missing enzyme. However, this treatment is not available for all types of inborn errors of carbohydrate metabolism.

See Also

• Metabolic disorder
• Genetic disorder
• Enzyme deficiency

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