2024 ICD-10-CM Diagnosis Code E74.05

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.

New 2024 ICD-10-CM Code

E74.05 is new to ICD-10-CM code set for the FY 2024, effective October 1, 2023. The National Center for Health Statistics (NCHS) has published an update to the ICD-10-CM diagnosis codes which became effective October 1, 2023. This is a new and revised code for the FY 2024 (October 1, 2023 - September 30, 2024).

Replacement Code

E7405 replaces the following previously assigned ICD-10-CM code(s):

• E74.09 - Other glycogen storage disease

Code History

• FY 2024 - Code Added, effective from 10/1/2023 through 9/30/2024