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Krabbe Disease - Medical Condition Information

Krabbe Disease

Sphingolipidosis, Krabbe's Type
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📋Overview

Krabbe disease, also known as globoid cell leukodystrophy, is a rare inherited disorder characterized by the progressive degeneration of the nervous system due to deficiency of the enzyme galactocerebrosidase (GALC). This enzyme deficiency leads to the accumulation of toxic substances that damage the protective myelin sheath around nerve cells, causing severe neurological symptoms. It is classified as a leukodystrophy and primarily affects infants but can also present later in life.

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Medical codes (for reference)

UMLS CUI: C0023521
ICD-10-CM
E75.23
MeSH
D007965
SNOMED CT (US)
192782005189979005

Codes are provided for reference and interoperability. They are not a diagnosis.

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