SPHINGOLIPIDOSES - Overview, Facts, Symptoms, Types and Diagnosis


Sphingolipidoses are a group of lipid storage diseases or progressive storing diseases caused by a lack of an enzyme necessary for the catabolism of ceramide-containing lipids, which is also related to sphingolipid biosynthesis. Niemann–Pick illness, Fabry infection, Krabbe illness, Gaucher disease, Tay–Sachs disease, and metachromatic leukodystrophy are the most common members of this category. They are generally regressive in automobile conditions, except Fabry, a recessive X-linked illness.

Sphingolipidoses affect around one out of every 10,000 people, although they affect a far higher percentage of specific groups, like Ashkenazi Jews. Fabry illness and Gaucher disease may both be treated with enzyme replacement treatment, and individuals with these sphingolipidoses can survive well into adulthood. The other kinds are usually deadly by the age of 1 to 5 years for juvenile forms, although juvenile- or adult-onset variants may develop more slowly.


  • Hyperreflexia
  • Denervation of the nervous system (leading to death)
  • Blindness
  • Spasticity
  • Pose that resembles decerebration
  • Deafness
  • Hypertonia

Defects of the Cornea

Sphingolipidoses, which are characterized by anomalies in ganglioside breakdown, are often linked to ocular and optical nerve problems. Corneal findings are considerably less common than other types of findings.

Fabry disease is caused by a lack of the lysosomal hydrolase alpha-galactosidase A, which has been linked to retina and gastric abnormalities, lens alterations, and papilledema (226). In the epithelium including both afflicted men and female carriers, verticillata, an investor’s haze, may be observed in the cornea. The opacity of the ink has no effect on your vision. Drug impacts from amiodarone, chloroquine, and phenothiazines should be included in the differential. Pathological examination of the epithelial cells reveals sphingolipid substances in the cytoplasmic and lysosomes.

Furthermore, other sphingolipidoses, such as Sandhoff illness and Niemann-Pick illness, may cause corneal clouding in rare cases, but clinical testing can reveal corneal participation. Gaucher illness with atrophic heart valvular disease has been linked to corneal opacification.


Presently, unknown cure for sphingolipidoses. Enzyme substitution, pharmacological chaperone treatment, and precursor decrease treatment, all of which have been proven to be effective in un-neuronopathic LSDs, are presently being tested in neuronopathic sphingolipidoses clinical trials.

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