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词条 Sphingolipidoses
释义

  1. Accumulated products

  2. Comparison

  3. Metabolic pathways

  4. See also

  5. References

  6. External links

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| synonyms = Sphingolipidosis
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| field = Medical genetics
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Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.

Accumulated products

  • Gangliosides: Gangliosidosis
    • GM1 gangliosidoses
    • GM2 gangliosidoses
    • Tay–Sachs disease
    • Sandhoff disease
    • GM2-gangliosidosis, AB variant
  • Glycolipids
    • Fabry's disease
    • Krabbe disease
    • Metachromatic leukodystrophy
  • Glucocerebrosides
    • Gaucher's disease

Comparison

Comparison of the main sphingolipidoses
Disease Deficient enzyme[1] Accumulated products[1] Symptoms[1] Inheritance[1] Incidence Generally accepted treatments Prognosis
Niemann-Pick diseaseSphingomyelinase Sphingomyelin in brain and RBCs
  • Mental retardation
  • Spasticity
  • Seizures
  • Hepatosplenomegaly
  • Thrombocytopenia
  • Ataxia
 Autosomal recessive 1 in 100,000[2] Limited Usually fatal by the age of approx 1.5 years but may live well into adulthood[3]
Fabry diseaseα-galactosidase A Glycolipids, particularly ceramide trihexoside, in brain, heart, kidney
  • Ischemic infarction in affected organs
  • Acroparesthesia
  • Angiokeratomas
  • hypohidrosis
X-linked[4] Between 1 in 40,000 to 1 in 120,000 live births for males[5] Enzyme replacement therapy (but expensive) Life expectancy among males of approximately 60 years[6]
Krabbe diseaseGalactocerebrosidase Glycolipids, particularly galactocerebroside, in oligodendrocytes
  • Spasticity
  • Neurodenegeration (leading to death)
  • Hypertonia
  • Hyperreflexia
  • Decerebration-like posture
  • Blindness
  • Deafness
Autosomal recessive About 1 in 100,000 births[7] Bone marrow transplant (high risk, potential failure, effectively provides enzyme replacement to the central nervous system from six months post-transplant, if done in the earliest stages; less effective enzyme replacement provision for the peripheral nervous system) Untransplanted, and in the case of a failed transplant, generally fatal before age 2 for infants
Gaucher diseaseGlucocerebrosidase Glucocerebrosides in RBCs, liver and spleen
  • Hepatosplenomegaly
  • Pancytopenia
  • Bone pain
  • Erlenmeyer flask deformity
Autosomal recessive About 1 in 20,000 live births,[8] more among Ashkenazi Jews Enzyme replacement therapy (but expensive) May live well into adulthood
Tay–Sachs diseaseHexosaminidase A GM2 gangliosides in neurons
  • Neurodegeneration
  • Developmental disability
  • Early death
Autosomal recessive Approximately 1 in 320,000 newborns in the general population,[9] more in Ashkenazi Jews None Death by approx. 4 years for infantile Tay–Sachs[10]
Metachromatic leukodystrophy (MLD)Arylsulfatase A or prosaposin Sulfatide compounds in neural tissue Demyelination in CNS and PNS:
  • Mental retardation
  • Motor dysfunction
  • Ataxia
  • Hyporeflexia
  • Seizures
Autosomal recessive[11] 1 in 40,000 to 1 in 160,000[12] Bone marrow transplant (high risk, potential failure, effectively provides enzyme replacement to the central nervous system from six months post-transplant, if done in the earliest stages; less effective enzyme replacement provision for the peripheral nervous system) Untransplanted, and in the case of a failed transplant, death by approx. 5 years for infantile MLD

Metabolic pathways

See also

  • Lipid storage disorder

References

1. ^1 2 3 If not otherwise specified, reference is: {{cite book |author1=Marks, Dawn B. |author2=Swanson, Todd |author3=Sandra I Kim |author4=Marc Glucksman |title=Biochemistry and molecular biology |publisher=Wolters Kluwer Health/Lippincott Williams & Wilkins |location=Philadelphia |year=2007 |pages= |isbn=0-7817-8624-X |oclc= |doi= |accessdate=}}
2. ^Niemann-Pick disease from Genetics Home Reference. Reviewed: January 2008. Based on an incidence in a general population of 1 in 250,000 for types A and B and 1 in 150,000 for type C
3. ^NINDS Niemann-Pick Disease Information Page at the National Institute of Neurological Disorders and Stroke. Last updated October 6, 2011
4. ^{{cite web | url = http://emedicine.medscape.com/article/951451-overview | title = Fabry Disease |vauthors=Banikazemi M, Desnick RJ, Astrin KH | date = 2009-07-08 | format = | work = eMedicine Pediatrics: Genetics and Metabolic Disease | publisher = Medscape | pages = | language = | archiveurl = | archivedate = | quote = | accessdate = 2010-12-31}}
5. ^{{Cite journal | last1 = Mehta | first1 = A. | last2 = Ricci | first2 = R. | last3 = Widmer | first3 = U. | last4 = Dehout | first4 = F. | last5 = Garcia De Lorenzo | first5 = A. | last6 = Kampmann | first6 = C. | last7 = Linhart | first7 = A. | last8 = Sunder-Plassmann | first8 = G. | last9 = Ries | first9 = M. | doi = 10.1111/j.1365-2362.2004.01309.x | last10 = Beck | first10 = M. | title = Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey | journal = European Journal of Clinical Investigation | volume = 34 | issue = 3 | pages = 236–242 | year = 2004 | pmid = 15025684| pmc = }}
6. ^{{Cite journal | last1 = Waldek | first1 = S. | last2 = Patel | first2 = M. R. | last3 = Banikazemi | first3 = M. | last4 = Lemay | first4 = R. | last5 = Lee | first5 = P. | title = Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry | doi = 10.1097/GIM.0b013e3181bb05bb | journal = Genetics in Medicine | volume = 11 | issue = 11 | pages = 790–796 | year = 2009 | pmid = 19745746 | pmc = }}
7. ^{{cite web |url= http://ghr.nlm.nih.gov/condition=krabbedisease|title= Krabbe disease|accessdate=2008-05-07|date= 2008-05-02|work= Genetics Home Reference|publisher= United States National Library of Medicine}}
8. ^Gaucher Disease at National Gaucher Foundation. Retrieved June 2012
9. ^GM2 Gangliosidoses – Introduction And Epidemiology at Medscape. Author: David H Tegay. Updated: Mar 9, 2012
10. ^{{Cite journal|title=Impact of Gene Patents and Licensing Practices on Access to Genetic Testing and Carrier Screening for Tay–Sachs and Canavan Disease|first1=Alessandra |last1=Colaianni|first2=Subhashini|last2=Chandrasekharan|first3=Robert|last3=Cook-Deegan|doi=10.1097/GIM.0b013e3181d5a669|pmc=3042321|year=2010|volume=12|issue=4 Suppl|pmid=20393311|pages=S5–S14|journal=Genetics in Medicine}}
11. ^{{cite journal |vauthors=Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP | title = Molecular genetics of metachromatic leukodystrophy | journal = Hum. Mutat. | volume = 4 | issue = 4 | pages = 233–42 | year = 1994 | pmid = 7866401 | doi = 10.1002/humu.1380040402 | url = | issn = }}
12. ^Metachromatic leukodystrophy at Genetics Home Reference. Reviewed September 2007

External links

{{Medical resources
| DiseasesDB = 33438
| ICD10 = {{ICD10|E|75|3|e|70}}
| ICD9 = {{ICD9|272.7}}
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| eMedicineTopic =
| MeshID = D013106
}}
  • {{MeshName|Sphingolipidoses}}
{{Lipid storage disorders}}{{biochemistry-stub}}

1 : Lipid storage disorders
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