📋Overview
Sphingolipidoses are a group of inherited metabolic disorders characterized by the accumulation of sphingolipids due to deficiencies in specific lysosomal enzymes. These conditions are a subset of lysosomal storage diseases and include well-known disorders such as Gaucher disease, Fabry disease, Tay-Sachs disease, and Niemann-Pick disease. The term 'sphingolipidosis' is a legacy label encompassing these related disorders, which are now classified individually based on the specific enzyme deficiency and clinical presentation.
🛡️ Educational information only
This content is provided for general health education and awareness and is based on publicly available medical information. It is not intended to replace professional medical advice, diagnosis, or treatment, and should not be used to make healthcare decisions. Always seek the guidance of a qualified healthcare professional regarding any medical condition, medication, supplement, or procedure.
Sections:
Additional Resources
Medical codes (for reference)
UMLS CUI: C0037899ICD-10-CM
E75.3
MeSH
D013106
SNOMED CT (US)
238028008
Codes are provided for reference and interoperability. They are not a diagnosis.
Found an Error?
Help us keep this information accurate. If you notice any incorrect details, please submit a correction request.