2024 ICD-10-CM Diagnosis Code E74.01

von Gierke disease

ICD-10-CM Code:
E74.01
ICD-10 Code for:
von Gierke disease
Is Billable?
Yes - Valid for Submission
Chronic Condition Indicator: [1]
Chronic
Code Navigator:

Code Classification

  • Endocrine, nutritional and metabolic diseases
    (E00–E89)
    • Metabolic disorders
      (E70-E88)
      • Other disorders of carbohydrate metabolism
        (E74)

E74.01 is a billable diagnosis code used to specify a medical diagnosis of von gierke disease. The code is valid during the current fiscal year for the submission of HIPAA-covered transactions from October 01, 2023 through September 30, 2024.

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

  • Deficiency of glucose-6-phosphatase
  • Glucose transport defect
  • Glucose-6-phosphate transport defect
  • Glycogen storage disease type Ia
  • Glycogen storage disease, hepatic form
  • Glycogen storage disease, hepatic form
  • Glycogen storage disease, hepatic form
  • Glycogen storage disease, type I

Clinical Classification

Clinical Information

  • Glycogen Storage Disease Type I

    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.
  • Glycogen Storage Disease Type II

    an autosomal recessively inherited glycogen storage disease caused by glucan 1,4-alpha-glucosidase deficiency. large amounts of glycogen accumulate in the lysosomes of skeletal muscle (muscle, skeletal); heart; liver; spinal cord; and brain. three forms have been described: infantile, childhood, and adult. the infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (cardiomyopathy, hypertrophic). the childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. the adult form consists of a slowly progressive proximal myopathy. (from muscle nerve 1995;3:s61-9; menkes, textbook of child neurology, 5th ed, pp73-4)
  • Glycogen Storage Disease Type IIb

    an x-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and intellectual disability. it is caused by mutation in the gene encoding lysosomal-associated membrane protein 2.
  • Glycogen Storage Disease Type III

    an autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). the clinical course of the disease is similar to that of glycogen storage disease type i, but milder. massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. six subgroups have been identified, with subgroups type iiia and type iiib being the most prevalent.
  • Glycogen Storage Disease Type IV

    an autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches. clinical features are muscle hypotonia and cirrhosis. death from liver disease usually occurs before age 2.
  • Glycogen Storage Disease Type I

    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.
  • Glycogen Storage Disease Type Ia|GSD1A|Glucose-6 Phosphatase Deficiency|Hepatorenal Glycogenosis|Von Gierke Disease

    an autosomal recessive condition caused by mutation(s) in the g6pc gene, encoding glucose-6-phosphatase. it is characterized by accumulation of glycogen in the kidneys and liver resulting in hypoglycemia, hyperlipidemia, and hyperuricemia. adults may have a high incidence of hepatic adenomas.
  • Glycogen Storage Disease Type Ib|Glycogen Storage Disease Type I non-a

    glycogen storage disease type i that is caused by mutations in the slc37a4 gene. it is characterized by a deficiency of glucose-6-phosphate translocase. it may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers.
  • Glycogen Storage Disease Type II

    an autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. it results in the abnormal accumulation of glycogen in the heart, skeletal muscles, liver, and nervous system.
  • Glycogen Storage Disease Type IIb|Danon Disease

    a genetic metabolic disorder causing hypertrophic cardiomyopathy. mutations of the lamp2 gene have been reported in association with this disease.
  • Glycogen Storage Disease Type III

    an autosomal recessive inherited type of glycogen storage disease caused by deficiency of the glycogen debranching enzyme. it results in the accumulation of structurally abnormal glycogen in the heart, skeletal muscles, and/or liver.
  • Glycogen Storage Disease Type IV

    a rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6 transglucosidase.
  • Glycogen Storage Disease Type IX|Phosphorylase Kinase Deficiency

    glycogen storage disease usually inherited in an x-linked recessive pattern. it is characterized by a deficiency of hepatic phosphorylase kinase.

Tabular List of Diseases and Injuries

The following annotation back-references are applicable to this diagnosis code. The Tabular List of Diseases and Injuries is a list of ICD-10-CM codes, organized "head to toe" into chapters and sections with coding notes and guidance for inclusions, exclusions, descriptions and more.


Inclusion Terms

Inclusion Terms
These terms are the conditions for which that code is to be used. The terms may be synonyms of the code title, or, in the case of "other specified" codes, the terms are a list of the various conditions assigned to that code. The inclusion terms are not necessarily exhaustive. Additional terms found only in the Alphabetic Index may also be assigned to a code.
  • Type I glycogen storage disease

Index to Diseases and Injuries References

The following annotation back-references for this diagnosis code are found in the injuries and diseases index. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10-CM code(s).

Convert E74.01 to ICD-9-CM

  • ICD-9-CM Code: 271.0 - Glycogenosis
    Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education


Carbohydrate Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.

Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.

These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.


[Learn More in MedlinePlus]

Glycogen storage disease type I

Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.

Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures. They can also have a buildup of lactic acid in the body (lactic acidosis), high blood levels of a waste product called uric acid (hyperuricemia), and excess amounts of fats in the blood (hyperlipidemia). As they get older, children with GSDI have thin arms and legs and short stature. An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged. Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas).

People with GSDI may experience delayed puberty. Beginning in young to mid-adulthood, affected individuals may have thinning of the bones (osteoporosis), a form of arthritis resulting from uric acid crystals in the joints (gout), kidney disease, and high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Females with this condition may also have abnormal development of the ovaries (polycystic ovaries). In affected teens and adults, tumors called adenomas may form in the liver. Adenomas are usually noncancerous (benign), but occasionally these tumors can become cancerous (malignant).

Researchers have described two types of GSDI, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a.

Many people with GSDIb have a shortage of white blood cells (neutropenia), which can make them prone to recurrent bacterial infections. Neutropenia is usually apparent by age 1. Many affected individuals also have inflammation of the intestinal walls (inflammatory bowel disease). People with GSDIb may have oral problems including cavities, inflammation of the gums (gingivitis), chronic gum (periodontal) disease, abnormal tooth development, and open sores (ulcers) in the mouth. The neutropenia and oral problems are specific to people with GSDIb and are typically not seen in people with GSDIa.


[Learn More in MedlinePlus]

Code History

  • FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
  • FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
  • FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.

Footnotes

[1] Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:

  • The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
  • The condition places limitations on self-care, independent living, and social interactions.