WordNet
- having or involving or consisting of more than one part or entity or individual; "multiple birth"; "multiple ownership"; "made multiple copies of the speech"; "his multiple achievements in public life"; "her multiple personalities"; "a pineapple is a multiple fruit"
- the product of a quantity by an integer; "36 is a multiple of 9"
PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- 多数の部分(要素)から成る,複合の,複式の / 倍数
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/04/28 11:22:28」(JST)
[Wiki en表示]
| Multiple sulfatase deficiency |
| Classification and external resources |
| OMIM |
272200 |
| MeSH |
D052517 |
Multiple sulfatase deficiency (also known as "Austin disease,"[1] and "Mucosulfatidosis"[1]) is a very rare autosomal recessive[2]:561 lysosomal storage disease[3] caused by a deficiency in multiple sulfatase enzymes.[4]:502[5] It is similar to mucopolysaccharidosis.[6]
Contents
- 1 Causes
- 2 Genetics
- 3 Presentation
- 4 Symptoms
- 5 See also
- 6 References
- 7 External links
Causes
Multiple sulfatase deficiency is thought to be caused by any mutation of the SUMF1 gene which would render it defective.[7][8] This results in deficient levels of active Sulfatase-modifying factor 1 - the human variant of Formylglycine-generating sulfatase enzyme.[9] This enzyme is involved in posttranslational modification of multiple sulfatase enzymes, and is required for their proper function.[10]
Genetics
MSD has an autosomal recessive inheritance pattern.[2]:561 The inheritance probabilities per birth are as follows:
- If both parents are carriers:
- 25% (1 in 4) children will have the disorder
- 50% (2 in 4) children will be carriers (but unaffected)
- 25% (1 in 4) children will be free of MSD - unaffected child that is not a carrier
- If one parent is affected and one is free of MSD:
- 0% (0) children will have the disorder - only one parent is affected, other parent always gives normal gene
- 100% (4 in 4) children will be carriers (but unaffected)
- If one parent is a carrier and the other is free of MSD:
- 50% (2 in 4) children will be carriers (but unaffected)
- 50% (2 in 4) children will be free of MSD - unaffected child that is not a carrier
Presentation
The disease is fatal, with symptoms that include neurological damage and severe mental retardation.[11] These sulfatase enzymes are responsible for breaking down and recycling complex sulfate-containing sugars from lipids and mucopolysaccharides within the lysosome. The accumlation of lipids and mucopolysaccharides inside the lysosome results in symptoms associated with this disorder. Worldwide, forty cases of Multiple Sulfatase Deficiency have been reported to date.
Symptoms
Symptoms of this disorder commonly appear between one and two years of age. Symptoms include mildly coarsened facial features, deafness, ichthyosis[12] and an enlarged liver and spleen (hepatosplenomegaly).[13] Abnormalities of the skeleton, such as a curving of the spine and breast bone may occur. The skin of individuals afflicted with this disorder, is typically dry. Children affected by this disorder develop more slowly than normal and may display delayed speech and walking skills.
See also
- Linear porokeratosis
- List of cutaneous conditions
References
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Dierks, T; Schmidt, B; Borissenko, Lv; Peng, J; Preusser, A; Mariappan, M; Von, Figura, K (May 2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme". Cell 113 (4): 435–44. doi:10.1016/S0092-8674(03)00347-7. PMID 12757705.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ Schmidt, B; Selmer, T; Ingendoh, A; Von, Figura, K (July 1995). "A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency". Cell 82 (2): 271–8. doi:10.1016/0092-8674(95)90314-3. PMID 7628016.
- ^ Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL (1988). "Multiple sulfatase deficiency". Neurology 38 (8): 1273–5. PMID 2899861.
- ^ Cosma MP, Pepe S, Annunziata I, et al. (May 2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases". Cell 113 (4): 445–56. doi:10.1016/S0092-8674(03)00348-9. PMID 12757706.
- ^ Annunziata I, Bouchè V, Lombardi A, "et al" (September 2007). "Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene". Human Mutation 28 (9): 298. doi:10.1002/humu.9504. PMID 17657823.
- ^ Dierks T, Schmidt B, Borissenko LV, et al. (May 2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme". Cell 113 (4): 435–44. doi:10.1016/S0092-8674(03)00347-7. PMID 12757705.
- ^ Landgrebe J, Dierks T, Schmidt B, "et al" (October 2003). "The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.". Gene 316: 47–56. doi:10.1016/S0378-1119(03)00746-7. PMID 14563551.
- ^ Farooqui AA, Horrocks LA (1984). "Biochemical aspects of globoid and metachromatic leukodystrophies". Neurochem Pathol 2 (3): 189–218. doi:10.1007/BF02834352. PMID 6152665.
- ^ The American Heritage Medical Dictionary: mucosulfatidosis
- ^ Burk, R; Valle, D; Thomas, GH; Miller, C; Moser, A; Moser, H; Rosenbaum, KN (1984). "Early manifestations of multiple sulfatase deficiency†". The Journal of Pediatrics 104 (4): 574. doi:10.1016/S0022-3476(84)80550-8. PMID 6142938.
External links
- Hide and Seek Foundation For Lysosomal Disease Research
|
(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7–272.8)
|
|
Sphingolipidoses
(to ceramide) |
|
From ganglioside
(gangliosidoses)
|
- Ganglioside: GM1 gangliosidoses
- GM2 gangliosidoses (Sandhoff disease
- Tay–Sachs disease
- AB variant)
|
|
|
From globoside
|
- Globotriaosylceramide: Fabry's disease
|
|
|
From sphingomyelin
|
- Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
- type C)
Glucocerebroside: Gaucher's disease
|
|
From sulfatide
(sulfatidoses
|
- Sulfatide: Metachromatic leukodystrophy
- Multiple sulfatase deficiency
Galactocerebroside: Krabbe disease
|
|
|
To sphingosine
|
|
|
|
| NCL |
- Infantile
- Jansky–Bielschowsky disease
- Batten disease
|
|
| Other |
- Cerebrotendineous xanthomatosis
- Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
- Sea-blue histiocyte syndrome
|
|
|
|
mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
|
k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
|
m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
|
|
|
|
|
Disorders of translation and posttranslational modification
|
|
| Translation |
- Ribosome: Diamond–Blackfan anemia
- FMR1
- Fragile X syndrome
- Fragile X-associated tremor/ataxia syndrome
- Premature ovarian failure 1
- Initiation factor: Leukoencephalopathy with vanishing white matter
- snRNP: Retinitis pigmentosa 33
|
|
| Posttranslational modification |
| Protein folding |
- Alzheimer's disease
- Huntington's disease
- Creutzfeldt–Jakob disease
- chaperonins: 3-Methylglutaconic aciduria 5
|
|
| Protein targeting |
|
|
| Ubiquitin |
- E1: X-linked spinal muscular atrophy 2
- E3: Johanson–Blizzard syndrome
- Von Hippel–Lindau disease
- 3-M syndrome
- Angelman syndrome
- Deubiquitinating enzyme: Machado–Joseph disease
- Aneurysmal bone cyst
- Multiple familial trichoepithelioma 1
|
|
| SUMO |
|
|
| Other |
- Multiple sulfatase deficiency
- Hyperproinsulinemia
- Ehlers–Danlos syndrome 6
|
|
|
- See also
- genetic translation
- posttranslational modification
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Screening patients referred to a metabolic clinic for lysosomal storage disorders.
- Fuller M, Tucker JN, Lang DL, Dean CJ, Fietz MJ, Meikle PJ, Hopwood JJ.SourceLysosomal Diseases Research Unit, SA Pathology at Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia. maria.fuller@adelaide.edu.au
- Journal of medical genetics.J Med Genet.2011 Jun;48(6):422-5. Epub 2011 Mar 17.
- BACKGROUND: Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD).DESIGN: 1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blo
- PMID 21415080
Japanese Journal
- Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation
- YIS Uluc,PEPE Stefano,KURUL Semra Hiz,BALLABIO Andrea,COSMA Maria Pia,DIRIK Eray
- Brain & development 30(5), 374-377, 2008-05-01
- NAID 10025577049
Related Links
- Multiple sulfatase deficiency (also known as "Austin disease," and " Mucosulfatidosis") is a very rare autosomal recessive :561 lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes. :502 It is similar to ...
Related Pictures
★リンクテーブル★
[★]
- 英
- multiple sulfatase deficiency
- 関
- 多種スルファターゼ欠損症候群
[★]
多種スルファターゼ欠損症候群
- 関
- multiple sulfatase deficiency
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
[★]
スルファターゼ、サルファターゼ、硫酸エステル加水分解酵素
[★]
- 関
- multifocality、multiplex、plural