Endocrinology Book

http://www.fpnotebook.com/

Lysosomal Storage DiseaseAka: Mucopolysaccharidoses, Mucolipidosis, Glycoprotein Metabolism Disorder, Gangliosidosis, Sphingolipidosis

Advertisement

  1. See Also
    1. Inborn Errors of Metabolism
  2. Mucopolysaccharidosis
    1. Hurler's Syndrome
    2. Scheie's Syndrome
    3. Hunter's Syndrome
    4. Sanfilippo's Syndrome (Types A-D)
    5. Morquio A-B
    6. Maroteaux-Lamy Syndrome
    7. Beta-glucuronidase deficiency
  3. Mucolipidosis
    1. Type 2: CNS, Bone and connective tissue involvement
    2. Type 3: Joint and connective tissue involvement
  4. Glycoprotein disorders
    1. Fucosidosis
    2. Mannosidosis
    3. Sialidosis
    4. Glycogen Storage Disease
    5. Aspartylglycosaminuria
  5. Gangliosidosis (Sphingolipidosis)
    1. Gaucher's Disease
    2. Niemann-Pick Disease
    3. Krabbe's Disease (Globoid leukodystrophy)
    4. Metachromatic leukodystrophy
    5. Ceramide lactoside lipidosis
    6. Fabry's Disease
    7. Tay-Sachs Disease
    8. Sandhoff's Disease
    9. Landing's Disease

Gangliosidoses (C0017083)

Definition (MSH)A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
Definition (CSP)group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include Tay-Sachs disease, gangliosidosis GM1, gangliosidoses GM2, and Sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration.
ConceptsDisease or Syndrome (T047)
ICD9330.1
EnglishGanglioside accumulation in nervous tissue lysosomes, GANGLIOSIDE STORAGE DIS, Ganglioside Storage Disease, Ganglioside Storage Diseases, Ganglioside Storage Disorder, Ganglioside Storage Disorders, Gangliosidoses, Gangliosidosis
Spanishacumulación de gangliósidos en lisosomas del tejido nervioso, acumulacion de gangliosidos en lisosomas del tejido nervioso, enfermedad por almacenamiento de gangliósidos, enfermedad por almacenamiento de gangliosidos, gangliosidosis
CreditsDerived from the NIH UMLS (Unified Medical Language System)


Mucolipidoses (C0026697)

Definition (MSH)A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
ConceptsDisease or Syndrome (T047)
EnglishMucolipidoses, Mucolipidosis
Spanishmucolipidosis
CreditsDerived from the NIH UMLS (Unified Medical Language System)


Sphingolipidoses (C0037899)

Definition (MSH)A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
Definition (CSP)lysosomal storage diseases characterized by abnormal storage of spingolipids.
ConceptsDisease or Syndrome (T047)
EnglishSPHINGOLIPID STORAGE DIS, Sphingolipid Storage Disease, Sphingolipid Storage Diseases, Sphingolipidoses, Sphingolipidosis
Spanishesfingolipidosis, esfingolipoidosis
CreditsDerived from the NIH UMLS (Unified Medical Language System)



Navigation Tree