スルファチドーシス、サルファチドーシス
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/10/26 10:03:42」(JST)
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Sulfatidosis |
Classification and external resources |
MeSH |
D052516 |
Sulfatidosis is a form of lysosomal storage disease resulting in a proliferation of sulfatide.
Contents
- 1 Causes
- 2 Types
- 3 See also
- 4 References
Causes
It is caused by a genetic insufficiency of sulfatase enzymes.[1]
Types
Metachromatic leukodystrophy and multiple sulfatase deficiency are classified as sulfatidoses.[2][3]
See also
- Sphingolipidoses#Overview for an overview table, including sulfatidosis
References
- ^ "Definition: sulfatidosis from Online Medical Dictionary".
- ^ Sulfatidosis at the US National Library of Medicine Medical Subject Headings (MeSH)
- ^ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease. St. Louis, Mo: Elsevier Saunders. p. 161. ISBN 0-7216-0187-1.
(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7–272.8)
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Sphingolipidoses
(to ceramide) |
From ganglioside
(gangliosidoses) |
- Ganglioside: GM1 gangliosidoses
- GM2 gangliosidoses (Sandhoff disease
- Tay–Sachs disease
- AB variant)
|
|
From globoside |
- Globotriaosylceramide: Fabry's disease
|
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From sphingomyelin |
- Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
- type C)
- Glucocerebroside: Gaucher's disease
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|
From sulfatide
(sulfatidoses
|
- Sulfatide: Metachromatic leukodystrophy
- Multiple sulfatase deficiency
- Galactocerebroside: Krabbe disease
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To sphingosine |
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NCL |
- Infantile
- Jansky–Bielschowsky disease
- Batten disease
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Other |
- Cerebrotendineous xanthomatosis
- Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
- Sea-blue histiocytosis
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Index of inborn errors of metabolism
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Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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Treatment |
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English Journal
- Dysfunction of platelet-derived growth factor receptor α (PDGFRα) represses the production of oligodendrocytes from arylsulfatase A-deficient multipotential neural precursor cells.
- Pituch KC1, Moyano AL1, Lopez-Rosas A1, Marottoli FM1, Li G2, Hu C2, van Breemen R2, Månsson JE3, Givogri MI4.
- The Journal of biological chemistry.J Biol Chem.2015 Mar 13;290(11):7040-53. doi: 10.1074/jbc.M115.636498. Epub 2015 Jan 20.
- The membrane-bound receptor for platelet-derived growth factor A (PDGFRα) is crucial for controlling the production of oligodendrocytes (OLs) for myelination, but regulation of its activity during OL differentiation is largely unknown. We have examined the effect of increased sulfated content of ga
- PMID 25605750
- Spiral ganglion degeneration and hearing loss as a consequence of satellite cell death in saposin B-deficient mice.
- Akil O1, Sun Y2, Vijayakumar S3, Zhang W4, Ku T1, Lee CK1, Jones S3, Grabowski GA5, Lustig LR6.
- The Journal of neuroscience : the official journal of the Society for Neuroscience.J Neurosci.2015 Feb 18;35(7):3263-75. doi: 10.1523/JNEUROSCI.3920-13.2015.
- Saposin B (Sap B) is an essential activator protein for arylsulfatase A in the hydrolysis of sulfatide, a lipid component of myelin. To study Sap B's role in hearing and balance, a Sap B-deficient (B(-/-)) mouse was evaluated. At both light and electron microscopy (EM) levels, inclusion body accumul
- PMID 25698761
- [Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy].
- Yang J1, Cao J, Li Y, Zheng H, Li J, Liang Y, Liu Z, Wang L, Zhang C.
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2014 Oct;31(5):615-8. doi: 10.3760/cma.j.issn.1003-9406.2014.01.017.
- OBJECTIVE: To study genotype-phenotype correlation of a family with late infantile metachromatic leukodystrophy(MLD).METHODS: Clinical data were collected and ARSA gene was tested by PCR and sequencing in a pedigree.RESULTS: The male proband onset with walking dysfunction at 19 months, arylsulfatase
- PMID 25297594
Related Links
- Definition of sulfatidosis in the Medical Dictionary. sulfatidosis explanation. Information about sulfatidosis in Free online English dictionary. What is sulfatidosis? Meaning of sulfatidosis medical term. What does sulfatidosis mean? ...
- Sulfatidosis. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
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