E74.01

Applicable To

• Type I glycogen storage disease

Approximate Synonyms

• Deficiency of glucose-6-phosphatase

• Deficiency of glucose-6-phosphate dehydrogenase

• Glucose 6 phosphatase deficiency

• Glycogen storage disease, type 1

• Glycogen storage disease, type i

Clinical Information

• An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.

• An autosomal recessive inherited type of glycogen storage disease. It is characterized by a deficiency of the enzyme glucose-6-phosphatase, resulting in the inability of the liver to produce free glucose causing severe hypoglycemia. There is abnormal accumulation of glycogen in the liver and kidneys.

• Autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production; accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly; increased concentrations of lactic acid and hyperlipidemia appear in the plasma; clinical gout often appears in early childhood.

Details

• E74.01 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 E74.01 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E74.01 – other international versions of ICD-10 E74.01 may differ.