- 関
- sialuria
WordNet
- an impairment of health or a condition of abnormal functioning
- street name for lysergic acid diethylamide (同)back breaker, battery-acid, dose, dot, Elvis, loony toons, Lucy in the sky with diamonds, pane, superman, window pane, Zen
- any of various water-soluble compounds having a sour taste and capable of turning litmus red and reacting with a base to form a salt
- having the characteristics of an acid; "an acid reaction"
- (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
- the act of storing something
- the commercial enterprise of storing goods and materials
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
- the granitelike rocks that form the outermost layer of the earths crust; rich in silicon and aluminum
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 酸性の / 酸味のある,すっぱい(sour) / (言葉・態度などが)厳しい,しんらつな / 酸 / すっぱいもの / 《俗》=LSD
- (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
- 病気にかかった / 病的な,不健全な(morbid)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/03/29 22:33:15」(JST)
[Wiki en表示]
| Salla disease |
|
Sialic acid
|
| Classification and external resources |
| OMIM |
604369 |
| DiseasesDB |
31935 |
| MeSH |
D029461 |
| GeneReviews |
- Free Sialic Acid Storage Disorders
|
Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria,[1] is an autosomal recessive[2] lysosomal storage disease characterized by early physical impairment and mental retardation. It was first described in 1979,[3] after Salla, a municipality in Finnish Lapland. Salla disease is one of 40 Finnish heritage diseases and affects approximately 130 individuals, mainly from Finland and Sweden.
Contents
- 1 Characteristics
- 2 Cause and Genetics
- 3 Life Expectancy
- 4 Diagnosis and Testing
- 5 Treatment
- 6 See also
- 7 References
- 8 External links
Characteristics
Individuals with Salla disease may present with nystagmus in the first months of life as well as hypotonia, reduced muscle tone and strength, and cognitive impairment.[4] The most severely impaired children do not walk or acquire language, but the typical patient learns to walk and speak and has normal life expectancy. The MRI shows arrested or delayed myelination.[5]
Cause and Genetics
Salla disease has an autosomal recessive pattern of inheritance.
SD is caused by a mutation in the SLC17A5 gene, located at human chromosome 6q14-15.[2][6] This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.
The disease is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome (chromosome 6 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Life Expectancy
The life expectancy for individuals with Salla disease is between the ages of 50 and 60.
Diagnosis and Testing
A diagnosis of this disorder can be made by measuring urine to look for elevated levels of free sialic acid.[7] Prenatal testing is also available for known carriers of this disorder.
Treatment
There is no cure for Salla Disease. Treatment is limited to controlling the symptoms of this disorder. Anti-convulsant medication may control seizure episodes. Physical therapists can assist an affected individual to build muscle strength and coordination, and speech therapists may assist the affected individual in improving his or her speech.
See also
- Infantile free sialic acid storage disease (ISSD)
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 604369
- ^ a b c Aula N, A. P.; Aula, P. (August 2006). "Prenatal diagnosis of free sialic acid storage disorders (SASD)". Prenatal Diagnosis 26 (8): 655–658. doi:10.1002/pd.1431. PMID 16715535. edit
- ^ Aula, P; Autio, S; Raivio, Ko; Rapola, J; Thodén, Cj; Koskela, Sl; Yamashina, I (Feb 1979). ""Salla disease": a new lysosomal storage disorder" (Free full text). Archives of neurology 36 (2): 88–94. doi:10.1001/archneur.1979.00500380058006. ISSN 0003-9942. PMID 420628.
- ^ Autio-Harmainen H, Oldfors A, Sourander P, Renlund M, Dammert K, Simila S (1988). "Neuropathology of Salla disease". Acta Neuropathol (Berl) 75 (5): 481–490. doi:10.1007/BF00687135. PMID 3287834.
- ^ Strehle EM (2003). "Sialic acid storage disease and related disorders". Genet Test 7 (2): 113–121. doi:10.1089/109065703322146795. PMID 12885332.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 604322
- ^ Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA (2004). "Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity". Mol Genet Metab 82 (2): 137–143. doi:10.1016/j.ymgme.2004.03.001. PMID 15172001.
External links
- Hide & Seek Foundation For Lysosomal Disease Research
- GeneReview/NIH/UW entry on Free Sialic Acid Storage Disorders
|
(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)
|
|
| Anabolism |
- Dolichol kinase deficiency
- Congenital disorder of glycosylation
|
|
Post-translational modification
of lysosomal enzymes |
- Mucolipidosis: I-cell disease/II
- Pseudo-Hurler polydystrophy/III
|
|
| Catabolism |
- Aspartylglucosaminuria
- Fucosidosis
- mannosidosis
- Alpha-mannosidosis
- Beta-mannosidosis
- Sialidosis
- Schindler disease
|
|
| Other |
- solute carrier family (Salla disease)
- Galactosialidosis
|
|
Index of inborn errors of metabolism
|
|
| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- glycolysis
- glycogenesis and glycogenolysis
- fructose and galactose
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- lipid
- phospholipid
- cholesterol and steroid
- lipoprotein
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- heme and porphyrin
- nucleotide
|
|
| Disorders |
- Citric acid cycle and electron transport chain
- Carbohydrate
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Lipid
- Lipid storage
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
|
|
| Treatment |
|
|
|
|
Genetic disorder, membrane: Solute carrier disorders
|
|
| 1-10 |
- SLC1A3
- SLC2A1
- SLC2A5
- SLC2A10
- Arterial tortuosity syndrome
- SLC3A1
- SLC4A1
- Hereditary spherocytosis 4/Hereditary elliptocytosis 4
- SLC4A11
- Congenital endothelial dystrophy type 2
- Fuchs' dystrophy 4
- SLC5A1
- Glucose-galactose malabsorption
- SLC5A2
- SLC5A5
- Thyroid dyshormonogenesis type 1
- SLC6A19
- SLC7A7
- Lysinuric protein intolerance
- SLC7A9
|
|
| 11-20 |
- SLC11A1
- SLC12A3
- SLC16A1
- SLC16A2
- Allan–Herndon–Dudley syndrome
- SLC17A5
- SLC17A8
|
|
| 21-40 |
- SLC26A2
- Multiple epiphyseal dysplasia 4
- Achondrogenesis type 1B
- Recessive multiple epiphyseal dysplasia
- Atelosteogenesis, type II
- Diastrophic dysplasia
- SLC26A4
- SLC35C1
- SLC39A4
- Acrodermatitis enteropathica
- SLC40A1
|
|
|
see also solute carrier family
Index of disease relating to protein defects
|
|
| Disease |
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
|
UpToDate Contents
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English Journal
- Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.
- Mütze U1, Bürger F2, Hoffmann J3, Tegetmeyer H4, Heichel J5, Nickel P6, Lemke JR7, Syrbe S1, Beblo S6.
- Molecular genetics and metabolism reports.Mol Genet Metab Rep.2016 Dec 1;10:1-4. eCollection 2017.
- BACKGROUND: Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or a
- PMID 27942463
- Sialoadhesin promotes neuroinflammation-related disease progression in two mouse models of CLN disease.
- Groh J1, Ribechini E2, Stadler D1, Schilling T1, Lutz MB2, Martini R1.
- Glia.Glia.2016 May;64(5):792-809. doi: 10.1002/glia.22962. Epub 2016 Jan 17.
- CLN diseases are mostly fatal lysosomal storage diseases that lead to neurodegeneration in the CNS. We have previously shown that CD8+ T-lymphocytes contribute to axonal perturbation and neuron loss in the CNS of Ppt1(-/-) mice, a model of CLN1 disease. We now investigated the role of the inflammati
- PMID 26775238
- CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
- Jansen JC1, Cirak S2, van Scherpenzeel M3, Timal S3, Reunert J4, Rust S4, Pérez B5, Vicogne D6, Krawitz P7, Wada Y8, Ashikov A3, Pérez-Cerdá C5, Medrano C5, Arnoldy A9, Hoischen A10, Huijben K11, Steenbergen G11, Quelhas D12, Diogo L13, Rymen D14, Jaeken J14, Guffon N15, Cheillan D15, van den Heuvel LP16, Maeda Y17, Kaiser O18, Schara U18, Gerner P19, van den Boogert MA20, Holleboom AG20, Nassogne MC21, Sokal E21, Salomon J22, van den Bogaart G23, Drenth JP22, Huynen MA24, Veltman JA25, Wevers RA11, Morava E26, Matthijs G14, Foulquier F6, Marquardt T4, Lefeber DJ27.
- American journal of human genetics.Am J Hum Genet.2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.
- Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlying cell-biological processes in the Golgi. Therefore, uncovering genetic defects and annotating gene function are challeng
- PMID 26833332
Japanese Journal
- A Vesicular Transporter That Mediates Aspartate and Glutamate Neurotransmission
- Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder
- Infantile sialic acid storage disease (ISSD) : Report of the first case detected in Poland
- Pediatrics international : official journal of the Japan Pediatric Society 45(2), 199-200, 2003-04-01
- NAID 10011917227
Related Links
- Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into ...
- The symptoms of free sialic acid storage disease may be different from person to person. Some people may be more severely affected than others, even people who have the same form. Not everyone with free sialic acid ...
- Free sialic acid storage disorders affect males and females in equal numbers. The exact frequency of these disorders in the general population is unknown. Salla disease has been reported in more than 150 individuals ...
★リンクテーブル★
[★]
- 英
- sialic acid storage disease
- 関
- シアル酸尿症
[★]
シアル酸尿症
- 関
- sialic acid storage disease
[★]
乳児シアル酸蓄積病 ISSD
[★]
- 疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder
[★]
- 関
- pool、pooling、preservation、preserve、reserve、store
[★]
シアル酸
- 関
- N-acetylneuraminic acid