E75.23

Approximate Synonyms

• Galactosylceramide beta-galactosidase deficiency

• Globoid cell leukodystrophy, late onset

• Krabbes disease

Clinical Information

• A degenerative disease of the central and peripheral nervous system caused by abnormal breakdown and turnover of myelin and marked by reduced galacosylceramide beta-galactosidase activity ec 3.2.1.46). Two types based on the age of onset are recognized: infantile-onset krabbe disease is marked by the appearance of symptoms at ages 3-6 months, which include irritability, frequent crying, and increase of muscle tonus. They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity. Most infants die during the second year of life. Late-onset krabbe disease lokd) has first symptoms at ages 5 to 10 years, consisting of focal neurological signs, hemiparesis, cerebellar ataxia, cortical blindness, and spastic paraplegia, followed by mental and physical deterioration. Some patients survive into adulthood.

• A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.

• An autosomal recessive metabolic disorder caused by a deficiency of galactosylceramidase leading to intralysosomal accumulation of galactolipids such as galactosylceramides and psychosine. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of myelin disrupts normal conduction of nerve impulses.

• Inherited, demyelinating, human lipid storage disease caused by a deficiency of galactosylceramidase; manifestations include convulsions, quadriplegia, blindness, deafness, and mental retardation.

Details

• E75.23 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E75.23 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E75.23 – other international versions of ICD-10 E75.23 may differ.