Format

Send to:

Choose Destination

Disorder of lysosomal enzyme

MedGen UID:
43098
Concept ID:
C0085078
Disease or Syndrome
Synonyms: Disease, Lysosomal Storage; Diseases, Lysosomal Storage; Disorder, Lysosomal Enzyme; Disorders, Lysosomal Enzyme; Enzyme Disorder, Lysosomal; Enzyme Disorders, Lysosomal; Lysosomal Enzyme Disorder; Lysosomal Enzyme Disorders; Lysosomal Storage Disease; Lysosomal Storage Diseases
SNOMED CT: Lysosomal enzyme defect (23585005); Lysosomal enzyme disorder (23585005); Disorder of lysosomal enzyme (23585005)
 

Definition

A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of lysosomal enzyme

Recent clinical studies

Etiology

Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T
Am J Med Genet A 2005 Sep 1;137A(3):235-40. doi: 10.1002/ajmg.a.30868. PMID: 16094673

Diagnosis

Sathasivam A, Garibaldi L, Murphy R, Ibrahim J
J Pediatr Endocrinol Metab 2006 Jun;19(6):859-62. PMID: 16886594

Therapy

Sathasivam A, Garibaldi L, Murphy R, Ibrahim J
J Pediatr Endocrinol Metab 2006 Jun;19(6):859-62. PMID: 16886594

Clinical prediction guides

Sathasivam A, Garibaldi L, Murphy R, Ibrahim J
J Pediatr Endocrinol Metab 2006 Jun;19(6):859-62. PMID: 16886594

Supplemental Content

Table of contents

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center