E74.12

Applicable To

• Fructosemia

Approximate Synonyms

• Hereditary fructosuria

Clinical Information

• A genetic disorder characterized by the absence of the enzyme aldolase-b from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure.

• An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase ec 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.

• Autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase ec 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate; accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose; prolonged fructose ingestion in infants leads ultimately to hepatic failure and death; patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.

Details

• E74.12 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E74.12 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E74.12 – other international versions of ICD-10 E74.12 may differ.