2026 ICD-10-CM Diagnosis Code E74.01von Gierke disease

AHRQ’s CCSR groups this code into broader clinical categories.

• 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.

• AGL wt Allele|Amylo-1, 6-Glucosidase, 4-Alpha-Glucanotransferase Gene|Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase Gene|Amylo-Alpha-1,6-Glucosidase and 4-Alpha-Glucanotransferase wt Allele|GDE|Glycogen Debrancher Enzyme Gene|Glycogen Debranching Protein Gene|Glycogen Storage Disease Type III Gene

  human agl wild-type allele is located in the vicinity of 1p21.2 and is approximately 75 kb in length. this allele, which encodes glycogen debranching enzyme protein, plays a role in glycogen degradation. mutations in the gene are associated with glycogen storage disease 3.

• G6PC1 wt Allele|G6PC|G6PT|G6Pase|GSD1|GSD1a|Glucose-6-Phosphatase Catalytic Subunit 1 wt Allele|Glucose-6-Phosphatase, Catalytic (Glycogen Storage Disease Type I, Von Gierke Disease) Gene|Glucose-6-Phosphatase, Catalytic Gene|Glucose-6-Phosphatase, Catalytic, 1 Gene|Glycogen Storage Disease Type I, Von Gierke Disease Gene

  human g6pc1 wild-type allele is located in the vicinity of 17q21.31 and is approximately 14 kb in length. this allele, which encodes glucose-6-phosphatase catalytic subunit 1 protein, plays a role in the terminal step of glycogenolysis and gluconeogenesis. mutations in the gene are associated with glycogen storage disease 1a.

• GAA wt Allele|Acid Alpha-Glucosidase Gene|Alpha Glucosidase wt Allele|Alpha-1,4-Glucosidase Gene|Alpha-Glucosidase, Acid Gene|Glucosidase Alpha, Acid Gene|Glucosidase, Alpha, Acid Gene|Glycogen Storage Disease Type II Gene|LYAG|Pompe Disease Gene

  human gaa wild-type allele is located in the vicinity of 17q25.3 and is approximately 18 kb in length. this allele, which encodes lysosomal alpha-glucosidase protein, plays a role in the lysosomal degradation of glycogen. mutations in the gene are associated with glycogen storage disease 2 (pompe disease).

• GBE1 wt Allele|1,4-Alpha-Glucan Branching Enzyme 1 wt Allele|APBD|Amylo-(1,4 to 1,6) Transglucosidase Gene|Amylo-(1,4 to 1,6) Transglycosylase Gene|Andersen Disease Gene|GBE|GSD4|Glucan (1,4-Alpha-), Branching Enzyme 1 Gene|Glycogen Branching Enzyme Gene|Glycogen Storage Disease Type IV Gene

  human gbe1 wild-type allele is located in the vicinity of 3p12.2 and is approximately 272 kb in length. this allele, which encodes 1,4-alpha-glucan-branching enzyme protein, plays a role in glycogen branching. mutation of the gene is associated with glycogen storage disease 4 and adult polyglucosan body neuropathy.

• 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.

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.

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