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
MSHD005733
EnglishGanglioside accumulation in nervous tissue lysosomes, GANGLIOSIDE STORAGE DIS, Ganglioside Storage Disease, Ganglioside Storage Diseases, Ganglioside Storage Disorder, Ganglioside Storage Disorders, Gangliosidoses, Gangliosidosis
Spanishacumulacion de gangliosidos en lisosomas del tejido nervioso, enfermedad por almacenamiento de gangliosidos, gangliosidosis
Parent ConceptsLysosomal Storage Diseases (C0085078), Degenerative brain disorder (C0154671), Sphingolipidoses (C0037899), Disorder of lipid storage and metabolism (C0342804), Inherited metabolic disorder of nervous system (C1263848)
SourcesCSP, MSH, MTHICD9, NDFRT, SCTSPA, SNOMEDCT
Derived 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)
MSHD009081
EnglishMucolipidoses, Mucolipidosis
Spanishmucolipidosis
Parent ConceptsBone Diseases, Metabolic (C0005944), Carbohydrate Metabolism, Inborn Errors (C0007001), Lysosomal Storage Diseases, Nervous System (C0751738), Lysosomal Storage Diseases (C0085078)
SourcesMEDLINEPLUS, MSH, NCI, NDFRT, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)


Mucopolysaccharidoses (C0026703)

Definition (MSH)Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Definition (CSP)any of a group of lysosomal storage diseases resulting from defects in degradation of glycosaminoglycans, which are excreted in urine and accumulate in tissue.
ConceptsDisease or Syndrome (T047)
ICD9277.5
MSHD009083
EnglishMPS - Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis
Spanishmucopolisacaridosis
Parent ConceptsLysosomal Storage Diseases (C0085078), Other disorders of metabolism (C0268329), Carbohydrate Metabolism, Inborn Errors (C0007001), Mucinoses (C0162855), Mucopolysaccharidoses (C0026703), Ambiguous concept (C1274012)
SourcesCSP, ICD9CM, LCH, MEDLINEPLUS, MSH, MTH, NCI, NDFRT, SCTSPA, SNOMEDCT
Derived 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)
MSHD013106
EnglishSPHINGOLIPID STORAGE DIS, Sphingolipid Storage Disease, Sphingolipid Storage Diseases, Sphingolipidoses, Sphingolipidosis
Spanishesfingolipidosis, esfingolipoidosis
Parent ConceptsLipoidosis (C0023794), Lysosomal Storage Diseases (C0085078), Lysosomal Storage Diseases, Nervous System (C0751738), Disorder of lipid storage and metabolism (C0342804)
SourcesCSP, MSH, NDFRT, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)


Lysosomal Storage Diseases (C0085078)

Definition (MSH)Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Definition (CSP)inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
ConceptsDisease or Syndrome (T047)
MSHD016464
EnglishDisorder of lysosomal enzyme, inborn lysosomal enzyme disorder, LYSOSOMAL ENZYME DIS, Lysosomal Enzyme Disorder, Lysosomal Enzyme Disorders, LYSOSOMAL STORAGE DIS, Lysosomal Storage Disease, Lysosomal Storage Diseases
Spanishtrastorno de enzimas lisosomales
Parent ConceptsInborn Errors of Metabolism (C0025521), Storage disease (C0267971), Enzymopathy (C0520572)
SourcesCSP, MSH, NCI, NDFRT, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)


Glycoprotein storage disorder (C0268220)

ConceptsDisease or Syndrome (T047)
EnglishGlycoprotein storage disorder
Spanishtrastorno por almacenamiento de glicoproteinas, trastorno por almacenamiento de glucoproteinas
Parent ConceptsLysosomal Storage Diseases (C0085078), [X]Disorder of glycoprotein metabolism, unspecified (C0342844)
SourcesSCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



Navigation Tree