Disorders of glycoprotein metabolism (E77)
The ICD-10 code section E77 covers disorders of glycoprotein metabolism, which are rare conditions affecting the body's processing of glycoproteins; proteins with sugar chains essential for various cellular functions. These codes are specifically used to classify different inherited and acquired metabolic disorders involving glycoprotein abnormalities.
This section includes codes like E77.0 for defects in post-translational modification of lysosomal enzymes, known by synonyms such as I-cell disease and pseudo-Hurler polydystrophy. It also features E77.1, which addresses disorders involving the breakdown of glycoproteins, including a range of conditions commonly called sialidosis, fucosidosis, and mannosidosis. The E77.8 code captures other varied and often congenital glycoprotein metabolism disorders, such as congenital disorders of glycosylation and carbohydrate-deficient glycoprotein syndromes, which can cause diverse symptoms like hypoproteinemia and anemia. Finally, E77.9 is used when a glycoprotein metabolism disorder is diagnosed but not specified further. Understanding these codes helps both healthcare professionals and coders accurately identify and classify these complex metabolic conditions efficiently.
Clinical Terms
The following clinical terms provide additional context, helping users better understand the clinical background and common associations for each diagnosis listed in this section. Including related terms alongside ICD-10-CM codes supports coders, billers, and healthcare professionals in improving accuracy, enhancing documentation, and facilitating research or patient education.
Aspartylglucosaminuria
A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
Fucosidosis
An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
