Endocrinology Book


Lysosomal Storage Disease

Aka: Lysosomal Storage Disease, Mucopolysaccharidoses, Mucolipidosis, Glycoprotein Metabolism Disorder, Gangliosidosis, Gangliosidoses, Sphingolipidosis
  1. See Also
    1. Inborn Errors of Metabolism
  2. Pathophysiology
    1. Lysosomal Storage Diseases lack enzymes that interfere with lysosomal Phagocytosis of large cellular molecules
  3. Types: 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
  4. Types: Mucolipidosis
    1. Type 2: CNS, Bone and connective tissue involvement
    2. Type 3: Joint and connective tissue involvement
  5. Types: Glycoprotein disorders
    1. Fucosidosis
    2. Mannosidosis
    3. Sialidosis
    4. Glycogen Storage Disease
    5. Aspartylglycosaminuria
  6. Types: 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 (MSHCZE) Vrozené onemocnění s porušeným metabolismem lipidů (lipidóza), které se hromadí v různých orgánech (zejm. v nervovém systému) a způsobují jejich závažné poškození. Narušen je metabolismus gangliosidů. Např. Tayova-Sachsova nemoc, (viz GM2-gangliosidóza). (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
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.
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.
Concepts Disease or Syndrome (T047)
MSH D005733
ICD10 E75.10
SnomedCT 50967008
English Gangliosidoses, Gangliosidosis, GANGLIOSIDE STORAGE DIS, Ganglioside Storage Disease, Ganglioside Storage Diseases, Storage Disease, Ganglioside, Storage Diseases, Ganglioside, Ganglioside Storage Disorder, Ganglioside Storage Disorders, Storage Disorder, Ganglioside, Storage Disorders, Ganglioside, Gangliosidosis NOS, Unspecified gangliosidosis, Gangliosidoses [Disease/Finding], ganglioside storage diseases, gangliosidosis, ganglioside storage disease, gangliosidoses, gangliosidosis (diagnosis), Ganglioside accumulation in nervous tissue lysosomes, Ganglioside storage disease, Gangliosidosis (disorder), Ganglioside storage disease, NOS, Gangliosidosis, NOS, Disease, Gangliosidosis
Swedish Gangliosidoser
Czech gangliosidóza
Finnish Gangliosidoosit
Japanese ガングリオシドーシス, ガングリオシド蓄積症
Italian Disordini da accumulo di gangliosidi, Malattie da accumulo di gangliosidi, Gangliosidosi
Polish Gangliozydozy
Norwegian Gangliosidavleiringssykdom, Gangliosidoser
Spanish acumulación de gangliósidos en lisosomas del tejido nervioso, enfermedad por almacenamiento de gangliósidos, gangliosidosis (trastorno), gangliosidosis, Gangliosidosis
French Gangliosidoses
German Gangliosidosen
Dutch Ganglioside
Portuguese Gangliosidoses
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. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Definition (NCI) A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.
Concepts Disease or Syndrome (T047)
MSH D009081
SnomedCT 70528007
English Mucolipidoses, Mucolipidosis, mucolipidosis (diagnosis), mucolipidosis, Mucolipidoses [Disease/Finding], mucolipidoses, Mucolipidosis (disorder), Mucolipidosis, NOS
Swedish Mukolipidoser
Czech mukolipidózy, Mukolipidóza
Finnish Mukolipidoosit
Japanese シアリドーシス, I細胞病, Iセル病, ガングリオシドシアリダーゼ欠損症, I-Cell病, サクランボ赤色斑ミオクローヌス症候群, ノイラミニダーゼ欠損症, ムコ脂質症, リポムコ多糖代謝異常症, ムコリピド症, リポムコ多糖沈着症, リポムコ多糖症, 偽ハーラー多発性ジストロフィ, ノイラミニダーゼ欠損病, Hurler病様ポリジストロフィー, ムコリピドーシス, ムコリピドーシス
Polish Choroba pseudo-Hurlera, Mukolipidozy
Norwegian Mukolipidoser
Dutch mucolipidose, Lipidose, muco-, Mucolipidose, Mucolipidosis
French Mucolipidose, Mucolipidoses
Hungarian Mucolipidosis
Spanish mucolipidosis (trastorno), mucolipidosis, Mucolipidosis
German Mukolipidose, Mukolipidosen
Italian Mucolipidosi
Portuguese Mucolipidose, Mucolipidoses
Derived from the NIH UMLS (Unified Medical Language System)

Mucopolysaccharidoses (C0026703)

Definition (NCI) A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
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.
Concepts Disease or Syndrome (T047)
MSH D009083
ICD9 277.5
ICD10 E76.3
SnomedCT 190942001, 267452003, 190936000, 11380006
English Mucopolysaccharidoses, Mucopolysaccharidosis, Mucopolysaccharidosis NOS, Mucopolysaccharidosis, unspecified, mucopolysaccharidosis, mucopolysaccharidosis (diagnosis), Mucopolysaccharidoses [Disease/Finding], mucopolysaccharidoses, Mucopolysaccharidosis NOS (disorder), MPS - Mucopolysaccharidosis, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, NOS, Mucopolysaccharidosis [Ambiguous]
Dutch mucopolysacharidose NAO, Mucopolysaccharidose, niet gespecificeerd, mucopolysacharidose, Mucopolysaccharidose, Stapelingsziekte
French Mucopolysaccharidose SAI, Mucopolysaccharidose, Mucopolysaccharidoses
German Mukopolysaccharidose NNB, Mukopolysaccharidose, nicht naeher bezeichnet, Mukopolysaccharidose, Mukopolysaccharidosen
Italian Mucopolisaccaridosi NAS, Mucopolisaccaridosi
Portuguese Mucopolissacaridose NE, Mucopolisacaridose, Mucopolissacaridoses
Spanish Mucopolisacaridosis NEOM, mucopolisacaridosis, SAI, mucopolisacaridosis, SAI (trastorno), mucopolisacaridosis (trastorno), mucopolisacaridosis, Mucopolisacaridosis
Japanese ムコ多糖症NOS, ムコタトウショウNOS, ムコタトウショウ, グリコサミノグリカン蓄積症, ムコ多糖症, ムコポリサッカリドーシス, ムコ多糖体沈着, ムコ多糖体沈着症, ムコ多糖体症, ムコ多糖沈着, ムコ多糖沈着症, 酸性ムコ多糖体症
Swedish Mukopolysackaridoser
Czech mukopolysacharidózy, Mukopolysacharidóza NOS, Mukopolysacharidóza
Finnish Mukopolysakkaridoosit
Korean 상세불명의 점액다당질증
Polish Mukopolisacharydozy
Hungarian Mucopolysaccharidosis k.m.n., Mucopolysaccharidosis
Norwegian Mukopolysakkaridoser, Glykosaminoglykanlagringssykdommer
Derived from the NIH UMLS (Unified Medical Language System)

Sphingolipidoses (C0037899)

Definition (CSP) lysosomal storage diseases characterized by abnormal storage of spingolipids.
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.
Concepts Disease or Syndrome (T047)
MSH D013106
ICD10 E75.3
SnomedCT 238028008, 58459009
English Sphingolipidosis, Sphingolipidosis, unspecified, SPHINGOLIPID STORAGE DIS, sphingolipidosis (diagnosis), sphingolipidosis, Sphingolipid Storage Disease, Sphingolipid Storage Diseases, Storage Disease, Sphingolipid, Storage Diseases, Sphingolipid, Sphingolipidoses [Disease/Finding], sphingolipidoses, Sphingolipidoses, Sphingolipidosis (disorder), Sphingolipidosis, NOS
German Sphingolipidspeicherkrankheiten, Sphingolipid-Speicherkrankheiten, Sphingolipidose, Sphingolipidose, nicht naeher bezeichnet, Sphingolipidosen
Swedish Sfingolipidoser
Czech sfingolipidózy
Finnish Sfingolipidoosit
Italian Malattie da accumulo di sfingolipidi, Sfingolipidosi
Japanese スフィンゴリピド症, スフィンゴ脂質症, スフィンゴリピドーシス
Korean 상세불명의 스핑고지질증
Polish Sfingolipidozy
Norwegian Sfingolipidavleiringssykdommer, Sfingolipidose, Sfingolipidoser
Dutch Sfingolipidose, niet gespecificeerd, Lipidose, sfingo-, Sfingolipidose, Sfingolipidosen
Spanish esfingolipidosis, esfingolipoidosis (trastorno), esfingolipoidosis, Esfingolipidosis
French Sphingolipidoses, Maladies de surcharge en sphingolipides
Portuguese Esfingolipidoses
Derived from the NIH UMLS (Unified Medical Language System)

Lysosomal Storage Diseases (C0085078)

Definition (NCI) 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.
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.
Concepts Disease or Syndrome (T047)
MSH D016464
SnomedCT 280081000009104, 23585005
LNC LP111174-1, MTHU036683
English 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 Diseases, inborn lysosomal enzyme disorder, LYSOSOMAL STORAGE DIS, LYSOSOMAL ENZYME DIS, Lysosomal Storage Disease, Lysosomal Storage Diseases [Disease/Finding], lysosomal storage disorders, lysosomal storage diseases, lysosomal storage disease, lysosomal storage disorder, Lysosomal storage disorders, Lysosomal storage disease (disorder), Lysosomal storage disease, Lysosomal storage diseases, Disorder of Lysosomal Enzymes, Lysosomal Storage Disorder, Disorder of lysosomal enzyme (disorder), Disorder of lysosomal enzyme, defect; lysosomal enzyme, lysosomal enzyme; defect, Disorder of lysosomal enzyme, NOS
Italian Patologie da accumulo lisosomiale, Difetti dell'enzima lisosomiale, Malattie da accumulo lisosomiale
Swedish Lysosomala upplagringssjukdomar
Japanese リソソームチクセキショウ, リソソーム蓄積症, 先天性リソソーム病, ハリソン病, ライソゾーム性蓄積症, リソソーム性蓄積症, リソソーム病, リソソーム酵素障害, 網内系脂肪蓄積症, ライソソーム病, ライソソーム蓄積病, ライソソーム酵素障害, ライソゾーム病, ライソゾーム蓄積病, ライソゾーム酵素障害, リソソーム蓄積病
Czech lyzozomální nemoci z ukládání, Poruchy střádání v lysozomech
Finnish Lysosomaaliset kertymäsairaudet
Spanish trastorno de enzimas lisosomales, trastorno de enzimas lisosómicas, trastorno de enzimas lisosómicas (trastorno), trastorno de enzimas lisosomales (trastorno), Alteraciones lisosómicas de almacenamiento, Enfermedades por Almacenamiento Lisosomal, Trastornos de la Enzima Lisosomal
Polish Choroby spichrzeniowe lizosomalne, Zaburzenia enzymów lizosomalnych
Hungarian Lysosomalis tárolási betegségek
Croatian Not Translated[Lysosomal Storage Diseases]
Norwegian Lysosomlagringssykdommer, Lysosomale avleiringssykdommer
French Troubles lysosomiques, Maladies lysosomiales, Maladies lysosomales
Dutch defect; lysosomaal enzym, lysosomaal enzym; defect, lysosomale stapelingsstoornissen, Lysosomale enzymafwijkingen, Lysosomale stapelingsziekte, Lysosomale stapelingsziekten, Lysosomale ziekte, Stapelingsziekte, lysosomale, Ziekte, lysosomale stapelings-
Portuguese Alterações do armazenamento lisossómico, Doenças por Armazenamento dos Lisossomos, Transtornos da Enzima Lisossômica
German Stoerungen der Lysosomenspeicherung, Lysosomale Speicherkrankheiten, Lysosomale Enzymstörungen
Derived from the NIH UMLS (Unified Medical Language System)

Glycoprotein storage disorder (C0268220)

Concepts Disease or Syndrome (T047)
SnomedCT 7810004
English Glycoprotein storage disorder (disorder), Glycoprotein storage disorder, Glycoprotein storage disorder, NOS
Spanish trastorno por almacenamiento de glicoproteínas, trastorno por almacenamiento de glucoproteínas (trastorno), trastorno por almacenamiento de glucoproteínas
Derived from the NIH UMLS (Unified Medical Language System)

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