2024 ICD-10-CM Diagnosis Code E74.09

Approximate Synonyms

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

• Adult polyglucosan body disease
• Cardiac glycogen phosphorylase kinase deficiency
• Danon disease
• Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase
• Glycogen phosphorylase kinase deficiency
• Glycogen phosphorylase kinase deficiency
• Glycogen phosphorylase kinase deficiency, autosomal recessive
• Glycogen phosphorylase kinase deficiency, autosomal recessive
• Glycogen storage disease due to aldolase A deficiency
• Glycogen storage disease due to lactate dehydrogenase deficiency
• Glycogen storage disease due to muscle beta-enolase deficiency
• Glycogen storage disease due to muscle phosphorylase kinase deficiency
• Glycogen storage disease due to muscle pyruvate kinase deficiency
• Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
• Glycogen storage disease type IXB
• Glycogen storage disease type VIII
• Glycogen storage disease type X
• Glycogen storage disease, hepatic form
• Glycogen storage disease, hepatic form
• Glycogen storage disease, hepatic form
• Glycogen storage disease, hepatic form
• Glycogen storage disease, hepatic form
• Glycogen storage disease, muscular form
• Glycogen storage disease, muscular form
• Glycogen storage disease, muscular form
• Glycogen storage disease, muscular form
• Glycogen storage disease, type IV
• Glycogen storage disease, type VI
• Glycogen storage disease, type VII
• Glycogen synthase deficiency
• Glycogenosis with glucoaminophosphaturia
• Hepatic and muscle glycogen phosphorylase kinase deficiency
• Hepatic glycogen phosphorylase kinase deficiency
• Hepatic glycogen synthase deficiency
• Hypertrophic cardiomyopathy due to glycogen storage disease
• Muscle and heart glycogen synthase deficiency
• Phosphate transport defect
• Polyglucosan body myopathy type 1
• Polyglucosan body myopathy type 2

Clinical Information

• Fanconi Syndrome

  a hereditary or acquired form of generalized dysfunction of the proximal kidney tubule without primary involvement of the kidney glomerulus. it is usually characterized by the tubular wasting of nutrients and salts (glucose; amino acids; phosphates; and bicarbonates) resulting in hypokalemia; acidosis; hypercalciuria; and proteinuria.

• Glycogen Storage Disease

  a group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. in some patients, prominent liver involvement is presented. in others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.

• 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 V

  glycogenosis due to muscle phosphorylase deficiency. characterized by painful cramps following sustained exercise.

• Glycogen Storage Disease Type VI

  a hepatic glycogen storage disease in which there is an apparent deficiency of hepatic phosphorylase (glycogen phosphorylase, liver form) activity.

• Glycogen Storage Disease Type VII

  an autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (phosphofructokinase-1, muscle type) resulting in abnormal deposition of glycogen in muscle tissue. these patients have severe congenital muscular dystrophy and are exercise intolerant.

• Glycogen Storage Disease Type VIII

  an x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. liver shrinkage occurs in response to glucagon.

• 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 VI

  an autosomal recessive sub-type of glycogen storage disease caused by mutation(s) in the pygl gene, encoding glycogen phosphorylase, liver form. the condition is characterized by mild-moderate hypoglycemia, growth retardation and hepatomegaly.

• Glycogen Storage Disease Type VII|GSD7|GSDVII|Glycogen Storage Disease VII|Muscle Phosphofructokinase Deficiency|PFKM Deficiency|Phosphofructokinase Deficiency|Phosphofructokinase Deficiency|Tarui Disease

  a rare, autosomal recessive inherited metabolic disorder caused by mutation in the pfkm gene. it results in the deficiency of the m subunit of the phosphofructokinase enzyme. it is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. affected infants develop muscle weakness. patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness.

Convert E74.09 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 0

Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.

The signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. The loss of consciousness that occurs with fainting typically lasts up to several hours. Some individuals with muscle GSD 0 have a disruption of the heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0.

Individuals with liver GSD 0 usually show signs and symptoms of the disorder in infancy. People with this disorder develop low blood sugar (glucose), known as hypoglycemia, after going long periods of time without food (fasting). Signs of hypoglycemia become apparent when affected infants begin sleeping through the night and stop late-night feedings; these infants exhibit extreme tiredness (lethargy), pale skin (pallor), and nausea. During episodes of fasting, ketone levels in the blood may increase (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars (such as glycogen) are unavailable. These short-term signs and symptoms of liver GSD 0 often improve when food is eaten and glucose levels in the body return to normal. The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure.

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Glycogen storage disease type IV

Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.

The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body. Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants usually do not survive past the newborn period due to weakened heart and breathing muscles.

The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Infants with the congenital muscular type of GSD IV typically survive only a few months.

The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). Children with this type develop a form of liver disease called cirrhosis that often is irreversible. High blood pressure in the vein that supplies blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood.

The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms.

The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. The severity of this type of GSD IV varies greatly; some people have only mild muscle weakness while others have severe cardiomyopathy and die in early adulthood.

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Glycogen storage disease type VI

Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.

The signs and symptoms of GSDVI typically begin in infancy to early childhood. The first sign is usually an enlarged liver (hepatomegaly). During prolonged periods without food (fasting), affected individuals may have low blood sugar (hypoglycemia) or elevated levels of ketones in the blood (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars are unavailable. Children with GSDVI tend to grow slower than their peers, but they often achieve normal height as adults. Some affected children also have mild delays in the development of motor skills, such as sitting, standing, or walking.

The signs and symptoms of GSDVI tend to improve with age; most adults with this condition do not have any related health problems.

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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.