42:
247:(or sex linked) inheritance occurs when the mother carries the affected gene on the X chromosome that has determined the child's gender and passes it to her son. Sons of carriers have a 50 percent chance of inheriting the disorder. Daughters have a 50 percent chance of inheriting the X-linked chromosome, but usually are not severely affected by the disorder. Affected men do not pass the disorder to their sons, but their daughters will be carriers for the disorder.
240:
inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. Each child born to these parents have a 25 percent chance of inheriting both copies of the defective gene, a 50 percent
271:
There are no specific treatments for lipid storage disorders; however, there are some highly effective enzyme replacement therapies for people with type 1 Gaucher disease and some patients with type 3 Gaucher disease. There are other treatments such as the prescription of certain drugs such as
192:
is available mainly to treat Fabry disease and
Gaucher disease and people with these types of sphingolipidoses may live well into adulthood. Generally, the other types are fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile-onset or adult-onset forms.
401:
386:
279:
Diet restrictions do not help prevent the buildup of lipids in the tissues because the cells in the tissues synthesize lipids from any precursor readily available (such as amino acids or carbohydrates).
241:
chance of being a carrier, and a 25 percent chance of not inheriting either copy of the defective gene. Children of either gender may be affected by an autosomal recessive this pattern of inheritance.
75:
needed to metabolize and break down lipids or, they produce enzymes that do not work properly. Over time, the buildup of fats may cause permanent cellular and tissue damage, particularly in the
259:, molecular analysis of cells or tissues, and enzyme assays. Certain forms of this disease also can be diagnosed through urine testing, which detects the stored material.
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324:
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724:
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Diagnosis of the lipid storage disorders can be achieved through the use of several tests. These tests include clinical examination, biopsy,
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755:
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790:
759:
496:
465:
729:
328:
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276:. Furthermore, gene therapies and bone marrow transplantation may prove to be effective for certain lipid storage disorders.
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convert, or metabolize, lipids and proteins into smaller components to provide energy for the body.
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Other lipid storage disorders that generally are not classified as sphingolipidoses include
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327:. National Institute of Neurological Disorders and Stroke. January 13, 2015. Archived from
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also is available to determine whether the fetus will have the disease or is a carrier.
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and tissues. People with these disorders either do not produce enough of one of the
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Group of genetic diseases involving the harmful accumulation of lipids in cells
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Alternatively, some of the sphingolipidoses may be classified into either
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Many lipid storage disorders can be classified into the subgroup of
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phenytoin and carbamazepine to treat pain for patients with
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743:
715:
688:
640:
595:
572:
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236:Lipid storage diseases can be inherited two ways:
63:disorders in which harmful amounts of fats or
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8:
184:. Taken together, sphingolipidoses have an
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140:metabolism. Members of this group include
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21:
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98:Inside cells under normal conditions,
172:. They are generally inherited in an
59:) is any one of a group of inherited
7:
325:"Lipid Storage Diseases Fact Sheet"
14:
756:Cholesteryl ester storage disease
760:Lysosomal acid lipase deficiency
751:Cerebrotendinous xanthomatosis
188:of approximately 1 in 10,000.
1:
672:Multiple sulfatase deficiency
166:multiple sulfatase deficiency
667:Metachromatic leukodystrophy
162:metachromatic leukodystrophy
730:Jansky–Bielschowsky disease
807:
489:Lysosomal storage diseases
190:Enzyme replacement therapy
125:
116:lysosomal storage diseases
110:Disorders that store this
114:material are part of the
81:peripheral nervous system
67:accumulate in some body
791:Lipid storage disorders
501:Lipid storage disorders
351:Lipid Storage Disorders
208:belongs to the latter.
770:Sea-blue histiocytosis
53:lipid storage disorder
25:Lipid storage disorder
583:Globotriaosylceramide
118:family of disorders.
613:Niemann–Pick disease
300:Metabolic Myopathies
295:Niemann–Pick disease
142:Niemann-Pick disease
136:, as they relate to
331:on January 11, 2015
238:Autosomal recessive
174:autosomal recessive
677:Galactocerebroside
549:GM2 gangliosidoses
544:GM1 gangliosidoses
432:External resources
245:X-linked recessive
202:GM2 gangliosidoses
198:GM1 gangliosidoses
778:
777:
711:
710:
632:Gaucher's disease
558:Tay–Sachs disease
455:
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222:Schindler disease
206:Tay–Sachs disease
158:Tay–Sachs disease
49:
48:
19:Medical condition
798:
628:Glucocerebroside
617:SMPD1-associated
553:Sandhoff disease
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510:Sphingolipidoses
497:lipid metabolism
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475:
468:
459:
370:
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347:
341:
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261:Prenatal testing
134:sphingolipidoses
128:Sphingolipidosis
122:Sphingolipidoses
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587:Fabry's disease
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257:genetic testing
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764:Wolman disease
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735:Batten disease
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703:Farber disease
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681:Krabbe disease
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653:leukodystrophy
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531:gangliosidoses
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373:Classification
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365:External links
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226:Wolman disease
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170:Farber disease
150:Krabbe disease
126:Main article:
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106:Classification
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606:Sphingomyelin
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598:sphingomyelin
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493:Inborn errors
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290:Xanthomatosis
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274:Fabry disease
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178:Fabry disease
176:fashion, but
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146:Fabry disease
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112:intracellular
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36:Endocrinology
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648:sulfatidoses
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335:November 28,
333:. Retrieved
329:the original
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270:
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138:sphingolipid
131:
109:
97:
56:
52:
50:
691:sphingosine
540:Ganglioside
526:ganglioside
218:fucosidosis
93:bone marrow
563:AB variant
306:References
725:Infantile
663:Sulfatide
643:sulfatide
575:globoside
441:eMedicine
356:eMedicine
267:Treatment
251:Diagnosis
186:incidence
100:lysosomes
61:metabolic
57:lipidosis
31:Specialty
785:Category
699:Ceramide
515:ceramide
446:ped/1310
284:See also
232:Genetics
182:X-linked
422:D008064
73:enzymes
622:type C
224:, and
168:, and
91:, and
89:spleen
65:lipids
38:
744:Other
641:From
596:From
573:From
524:From
411:272.7
212:Other
85:liver
77:brain
69:cells
513:(to
417:MeSH
406:9-CM
337:2005
55:(or
717:NCL
689:To
495:of
402:ICD
396:E75
387:ICD
354:at
200:or
180:is
787::
701::
679::
665::
630::
608::
585::
542::
491::
444::
420::
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394::
391:10
314:^
228:.
220:,
204:.
164:,
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95:.
87:,
83:,
79:,
51:A
766:)
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758:(
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646:(
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615:(
565:)
551:(
533:)
529:(
517:)
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499:(
481:e
474:t
467:v
404:-
389:-
379:D
339:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
