Sphingolipidoses

Sphingolipidoses
Classification and external resources
ICD-10	E75.3
ICD-9	272.7
DiseasesDB	33438
MeSH	D013106

Sphingolipidoses are a class of disorders relating to Sphingolipid metabolism.

Accumulated products

• Gangliosides: Gangliosidosis
  • GM1 gangliosidoses
  • GM2 gangliosidoses
    • Tay-Sachs disease
    • Sandhoff disease
• Glycolipids
  • Fabry's disease
  • Krabbe disease
  • Metachromatic leukodystrophy
• Glucocerebrosides
  • Gaucher's disease

Overview

Comparison of the main sphingolipidoses

Disease	Deficient enzyme	Accumulated products	Symptoms	Inheritance
Niemann-Pick disease	Sphingomyelinase	Sphingomyelin in brain and RBCs	Mental retardation Spasticity Seizures Ataxia Death by 2–3 years	Autosomal recessive
Fabry disease	α-galactosidase A	Glycolipids in brain, heart, kidney	Ischemic infarction in affected organs Acroparesthesia Angiokeratomas hypohidrosis	X-linked
Krabbe disease	Galactocerebrosidase	Glycolipids in oligodendrocytes	Spasticity Neurodenegeration (leading to death) Hypertonia Hyperreflexia Decerebration-like posture Blindness Deafness	Autosomal recessive
Gaucher disease	Glucocerebrosidase	Glucocerebrosides in RBCs, liver and spleen	Hepatosplenomegaly Anemia Thrombocytopenia Bone pain Erlenmeyer flask deformity	Autosomal recessive, prevalent in Ashkenazi Jews
Tay-Sachs disease	Hexosaminidase A	GM2 gangliosides in neurons	Neurodegeneration Developmental disability Early death	Autosomal recessive, prevalent in Ashkenazi Jews
Metachromatic leukodystrophy	Arylsulfatase A or prosaposin	Sulfatide compounds in neural tissue	Demyelinisation in CNS and PNS: Mental retardation Motor dysfunction Ataxia Hyporeflexia Seizures	Autosomal recessive

See also

• Lipid storage disorder

External links

• MeSH Sphingolipidoses
• -382402491 at GPnotebook