SACHS DISEASE

Pronunciation (US):

(GB):

IPA (US):

 Dictionary entry overview: What does Sachs disease mean? 

• SACHS DISEASE (noun)
  The noun SACHS DISEASE has 1 sense:

1. a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

  Familiarity information: SACHS DISEASE used as a noun is very rare.

 Dictionary entry details 

• SACHS DISEASE (noun)

Sense 1

Meaning:

A hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

Classified under:

Nouns denoting stable states of affairs

Synonyms:

infantile amaurotic idiocy; Sachs disease; Tay-Sachs; Tay-Sachs disease

Hypernyms ("Sachs disease" is a kind of...):

monogenic disease; monogenic disorder (an inherited disease controlled by a single pair of genes)

autosomal recessive defect; autosomal recessive disease (a disease caused by the presence of two recessive mutant genes on an autosome)

lipidosis (a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body)

 Context examples 

Some examples of genetic brain disorders include: • Leukodystrophies • Phenylketonuria • Tay-Sachs disease • Wilson disease

(Genetic Brain Disorders, NIH)

Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

(Lipid Metabolism Disorder, NCI Thesaurus)

Gangliosides are named as N-acetyl- (or N-glycoloyl-)neuraminosyl-(X)osylceramide, where (X) stands for the root name of the neutral oligosaccharide to which the sialosyl residue is attached ; found principally in nerve tissue, spleen, and thymus; GM1 accumulates in generalized gangliosidosis; GM2 accumulates in Tay-Sachs disease.

(Ganglioside, NCI Thesaurus)