E74.01
von Gierke disease
Clinical Classification Guidelines
Inclusion Terms
- Type I glycogen storage disease
Medical Intelligence & Overview
Von Gierke disease, also known as glycogen storage disease type I, is a rare genetic disorder that affects how the body processes and stores sugar. This condition specifically impacts the liver's ability to release glucose into the bloodstream, leading to episodes of hypoglycemia (low blood sugar). It is characterized by the abnormal storage of glycogen, a form of sugar stored in the liver and kidneys, due to a deficiency of the enzyme glucose-6-phosphatase. Early diagnosis and management are crucial to prevent complications and improve quality of life.
Causes & Symptoms
Clinical Causes: Inherited genetic mutation affecting the G6PC gene Autosomal recessive inheritance pattern, meaning both parents must pass on a defective gene Enzyme deficiency (glucose-6-phosphatase) responsible for converting glycogen into glucose
Key Symptoms: Severe hypoglycemia, especially during fasting or between meals Growth retardation and delayed puberty in children Large liver (hepatomegaly) A low blood sugar level that may cause sweating, weakness, or seizures Increased lactic acid levels in the blood (lactic acidosis) Elevated uric acid leading to gout High levels of fats (lipids) in the blood Developmental delays and muscle weakness in some cases
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves a combination of clinical evaluation, blood tests, and genetic testing. Healthcare providers may perform the following to confirm the condition:
Treatment Protocols: While there is no cure for von Gierke disease, management focuses on controlling symptoms and preventing complications. Treatment strategies include:
Clinical Advice & FAQs
Billing Guidance
Is E74.01 a billable ICD-10 code?
Yes, E74.01 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E74.01?
Clinical documentation must specify the nature of von Gierke disease and any associated comorbidities for accurate reporting.
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