Disorders of glycoprotein metabolism (E77)

• ICD-10 Index

  • Endocrine, nutritional and metabolic diseases (E00–E90)

    • Metabolic disorders (E70-E88)

      • Disorders of glycoprotein metabolism (E77)

        • E77 - Disorders of glycoprotein metabolism NON-BILLABLE CODE
        • E77.0 - Defects in post-translational mod of lysosomal enzymes BILLABLE CODE
        • E77.1 - Defects in glycoprotein degradation BILLABLE CODE
        • E77.8 - Other disorders of glycoprotein metabolism BILLABLE CODE
        • E77.9 - Disorder of glycoprotein metabolism, unspecified BILLABLE CODE

Clinical Information for Disorders of glycoprotein metabolism (E77)

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)