E77.1

Defects in glycoprotein degradation

A rare autosomal recessive lysosomal disorder characterized by deficiency of n-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood.

A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-d-mannosidase or beta-mannosidase. Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.

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.

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)

An autosomal recessive lysosomal storage disease characterized by a defective alpha-l-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances.

An inborn error of metabolism caused by deficient activity of the enzyme aspartylglucosaminidase. Clinical manifestations consist of psychomotor retardation, coarse facies, hepatosplenomegaly, ventral hernia, and skeletal abnormalities.

Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages mannosidases). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.

Lysosomal storage disease caused by defective alpha-l-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures.

Lysosomal storage disease due to defective alpha-mannosidase with resultant oligosaccharide accumulation.

Lysosome storage disease due to alpha-l-fucosidase e.c. 3.2.1.51) deficiency in leukocytes manifested by abnormal accumulation in tissues and urinary excretion of partially catabolized oligosaccharides, glycoasparagines, and glycolipids with alpha-linked fucose at the nonreducing end of the glycogen chain. The phenotype is variable and may include delayed growth and mental development, progressive neurological deterioration, hurler-like mucopolysaccharidosis i-h) coarse facies, recurrent infections, visceromegaly, skeletal abnormalities, joint contractures, deafness, and angiokeratoma corporis diffusum. Several types are recognized by different researchers. The form exhibiting a longer survival, mild neurological manifestations, and angiokeratoma is sometimes referred to as fucosidosis type ii. In a different scheme, three different types are recognized according to their age of onset. Types i and ii are the most severe and have their onsets at 10 and 18 months, respectively with life expectancy of 6 years. Type iii represents a juvenile form which is marked by a milder form of psychomotor retardation and a slower deterioration of neurological activities. Hurler-like gargyloid) facies occur mainly in types i and ii and is less commonly in type iii.

E77.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

This is the American ICD-10-CM version of E77.1 – other international versions of ICD-10 E77.1 may differ.