Sphingolipidoses

Sphingolipidoses
Specialty	Endocrinology

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
Krabbe disease	β-galactosidase	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	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

• Sphingolipidoses at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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