33:
118:
197:
is unable to be transported out of the lysosomal membrane and instead accumulates in the tissue, causing free sialic acid to be excreted in the urine. Mutations in the SLC17A5 (solute carrier family 17 (anion/sugar transporter), member 50) gene cause all forms of sialic acid storage disease. The
300:
202:
between positions 14 and 15. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials.
145:
hepatosplenomegaly; hypotonia; failure to thrive; developmental delays; cognitive deficits; seizures; skeletal abnormalities; dysplasia; metaphyses; clubbed feet; abnormally short thigh bones; nystagmus;
230:
A diagnosis can be made by measuring cultured tissue samples for increased levels of free sialic acid. Prenatal testing is also available for known carriers of this disorder
62:
368:
312:
84:
45:
55:
49:
41:
219:
190:
66:
341:
363:
277:
17:
140:
222:
in a family from northern
Finland. Salla refers to the area where the affected family resided.
167:
130:
117:
357:
199:
194:
214:
The mild form of the disease, Salla disease (also referred to as
Finnish-type
336:
215:
292:
304:
251:"OMIM Entry - # 269920 - INFANTILE SIALIC ACID STORAGE DISEASE; ISSD"
278:
GeneReviews/NCBI/NIH/UW entry on Free Sialic Acid
Storage Disorders
206:
ISSD is the most severe form of the sialic acid storage diseases.
317:
250:
26:
125:
This condition is inherited via an autosomal recessive manner
282:
327:
286:
176:
166:
158:
150:
139:
129:
107:
102:
54:but its sources remain unclear because it lacks
198:SLC17A5 gene is located on the long (q) arm of
8:
283:
187:Infantile free sialic acid storage disease
116:
103:Infantile free sialic acid storage disease
99:
85:Learn how and when to remove this message
239:
218:, OMIM#604369) was first reported as a
172:clinical evaluation and genetic testing
18:Infantile sialic acid storage disorder
7:
245:
243:
25:
31:
180:<1 per 1,000,000 individuals
1:
369:Autosomal recessive disorders
162:mutations in the SLC17A5 gene
385:
220:lysosomal storage disorder
191:lysosomal storage disease
124:
115:
135:Neurology, endocrinology
40:This article includes a
69:more precise citations.
193:. ISSD occurs when
328:External resources
42:list of references
351:
350:
184:
183:
168:Diagnostic method
97:Medical condition
95:
94:
87:
16:(Redirected from
376:
284:
265:
264:
262:
261:
247:
120:
100:
90:
83:
79:
76:
70:
65:this article by
56:inline citations
35:
34:
27:
21:
384:
383:
379:
378:
377:
375:
374:
373:
354:
353:
352:
347:
346:
323:
322:
295:
274:
269:
268:
259:
257:
249:
248:
241:
236:
228:
212:
98:
91:
80:
74:
71:
60:
46:related reading
36:
32:
23:
22:
15:
12:
11:
5:
382:
380:
372:
371:
366:
356:
355:
349:
348:
345:
344:
332:
331:
329:
325:
324:
321:
320:
309:
296:
291:
290:
288:
287:Classification
281:
280:
273:
272:External links
270:
267:
266:
238:
237:
235:
232:
227:
224:
211:
208:
182:
181:
178:
174:
173:
170:
164:
163:
160:
156:
155:
152:
148:
147:
143:
137:
136:
133:
127:
126:
122:
121:
113:
112:
109:
105:
104:
96:
93:
92:
50:external links
39:
37:
30:
24:
14:
13:
10:
9:
6:
4:
3:
2:
381:
370:
367:
365:
364:Rare diseases
362:
361:
359:
343:
339:
338:
334:
333:
330:
326:
319:
315:
314:
310:
307:
306:
302:
298:
297:
294:
289:
285:
279:
276:
275:
271:
256:
252:
246:
244:
240:
233:
231:
225:
223:
221:
217:
209:
207:
204:
201:
196:
192:
188:
179:
175:
171:
169:
165:
161:
157:
153:
149:
144:
142:
138:
134:
132:
128:
123:
119:
114:
110:
106:
101:
89:
86:
78:
68:
64:
58:
57:
51:
47:
43:
38:
29:
28:
19:
335:
311:
299:
258:. Retrieved
254:
229:
213:
205:
200:chromosome 6
189:(ISSD) is a
186:
185:
111:severe FSASD
81:
72:
61:Please help
53:
195:sialic acid
108:Other names
67:introducing
358:Categories
260:2024-08-11
234:References
75:April 2020
226:Diagnosis
177:Frequency
131:Specialty
337:Orphanet
255:omim.org
216:sialuria
154:lifelong
151:Duration
141:Symptoms
308:: E77.8
210:History
146:ataxia.
63:improve
342:309324
318:269920
159:Causes
48:, or
313:OMIM
301:ICD
360::
340::
316::
305:10
253:.
242:^
52:,
44:,
303:-
293:D
263:.
88:)
82:(
77:)
73:(
59:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
