119:. Lysosomes cannot function without these proteins, which function as catabolic enzymes for the normal breakdown of substances (e.g. oligosaccharides, lipids, and glycosaminoglycans) in various tissues throughout the body (i.e. fibroblasts). As a result, a buildup of these substances occurs within lysosomes because they cannot be degraded, resulting in the characteristic
123:, or "inclusion cells" seen microscopically. In addition, the defective lysosomal enzymes normally found only within lysosomes are instead found in high concentrations in the blood, but they remain inactive at blood pH (around 7.4) because they require the low lysosomal pH 5 to function.
1110:
773:
758:
743:
250:. Consequently, lysosomes lack the requisite hydrolytic enzymes needed for catabolism of cellular debris, so this debris accumulates within them and forms the characteristic intracellular inclusions (hence the name of the disorder).
1103:
1096:
139:. Generally, only laboratory testing can distinguish the two as the presentation is so similar, with high plasma concentrations of lysosomal enzymes, often fatal in childhood. Typically, by the age of six months,
413:
881:
147:
are obvious signs of this disorder. Some physical signs, such as abnormal skeletal development, coarse facial features (e.g. bulging scaphocephalic head, flat nose), and restricted
926:
507:
1177:
366:
There is no cure for I-cell disease/Mucolipidosis II disease; treatment is limited to controlling or reducing symptoms. Nutritional supplements, particularly
351:
1159:
258:
1387:
574:
Tiede S, Storch S, LĂĽbke T, et al. (2005). "Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase".
943:
163:. Affected children often have stiff claw-shaped hands and fail to grow and develop in the first months of life. Delays in the development of their
115:
within the cell. Without this marker, proteins are instead secreted outside the cell, which is the default pathway for proteins moving through the
433:"Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population"
390:
558:
393:
may be helpful in delaying or correcting the neurological deterioration that occurs with I-Cell disease. The Yash Gandhi
Foundation is a US
967:
919:
904:
418:
1318:
788:
1328:
1271:
530:
491:
675:
977:
912:
676:"Inherited Metabolic Storage Diseases and BMT - MED - PEDS - Blood and Marrow Transplantation Program, University of Minnesota"
144:
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1223:
1352:
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movement, may be present at birth. Children with ML II usually have enlargement of certain organs, such as the liver (
1362:
1308:
179:(underdeveloped trunk). These young patients are often plagued by recurrent respiratory tract infections, including
962:
939:
254:
secreted into the blood stream cause little problem as they are inactivate at the near neutral pH of blood (7.4).
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935:
212:
96:
876:
799:
196:
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284:(GAG's) and carbohydrates in the blood provide for the distinguishing characteristic to separate I-cell from
1304:
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131:
Mucolipidosis II (ML II) is a particularly severe form of ML that has a significant resemblance to another
1392:
1213:
1120:
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394:
262:
192:
31:
1066:
861:
132:
553:. Richard A Harvey, Denise R Ferrier (3rd ed.). Philadelphia, Pa.: Lippincott-Raven. p. 167.
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residues on specific proteins. Mannose-6-phosphate serves as a marker for proteins to be targeted to
1357:
777:
277:
247:
235:
223:
208:
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Abnormally low concentrations of UDP-N-acetylglucosamine-1-phosphotransferase enzyme activity in
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1037:
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55:
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to improve language acquisition are treatment options. Surgery can remove the thin layer of
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355:
341:
195:. Children with ML II generally die before their seventh year of life, often as a result of
60:
1205:
886:
432:
312:
285:
243:
231:
136:
116:
104:
651:
382:
308:
782:
1381:
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679:
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171:(mental processing) skills. Children with ML II eventually develop a clouding on the
603:
468:
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894:
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227:
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160:
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17:
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of their eyes and, because of their lack of growth, develop short-trunk
219:
108:
30:"ML II" redirects here. For the American activist and philosopher, see
389:
clouding to temporarily improve the complication. It is possible that
70:
Mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB)
762:
747:
386:
273:
261:(GNPTA). In a case report, I-cell disease was complicated by severe
172:
120:
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1184:
652:"I Cell Disease - NORD (National Organization for Rare Disorders)"
148:
1148:
793:
367:
1092:
908:
544:
542:
700:
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tag will also cause I-cell disease. The presence of lipids,
482:
Bamshad, Lynn B. Jorde, John C. Carey, Michael J. (2010).
431:
Plante M, Claveau S, Lepage P, et al. (March 2008).
725:
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1327:
1258:
1240:
1204:
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1131:
1058:
1008:
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955:
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729:
242:, the enzymes are erroneously transported from the
66:
54:
46:
41:
167:are usually more pronounced than delays in their
1178:Leukoencephalopathy with vanishing white matter
656:NORD (National Organization for Rare Disorders)
525:. New York: McGraw Hill Education. p. 77.
300:Diagnostic measures can include the following:
551:Lippincott's Illustrated Reviews: Biochemistry
486:(4th ed.). Philadelphia: Mosby/Elsevier.
1104:
920:
8:
506:: CS1 maint: multiple names: authors list (
352:UDP-N-acetylglucosamine-1-phosphotransferase
1160:Fragile X-associated tremor/ataxia syndrome
900:GeneReview/NIH/UW entry on Mucolipidosis II
259:N-acetylglucosamine-1-phosphate transferase
199:or recurrent respiratory tract infections.
1201:
1111:
1097:
1089:
927:
913:
905:
726:
38:
397:which funds research for I-Cell disease.
406:
337:and increased in the surrounding medium
499:
107:). This enzyme transfers phosphate to
1319:Multiple familial trichoepithelioma 1
7:
1000:Pseudo-Hurler polydystrophy (ML III)
968:Congenital disorder of glycosylation
646:
644:
642:
640:
638:
99:family and results from a defective
211:disorder caused by a deficiency of
1272:X-linked spinal muscular atrophy 2
25:
1388:Glycoprotein metabolism disorders
453:10.1111/j.1399-0004.2007.00954.x
978:Post-translational modification
354:enzyme activity as measured in
1198:Posttranslational modification
1125:posttranslational modification
618:"Sahha.gov.mt - 2006 Dec;29_1"
1:
1353:Multiple sulfatase deficiency
1232:3-Methylglutaconic aciduria 5
268:Though rare, a deficiency of
523:First Aid for the USMLE 2014
419:Dorland's Medical Dictionary
381:to improve motor delays and
1165:Premature ovarian failure 1
329:Decreased concentration of
1409:
1283:Johanson–Blizzard syndrome
963:Dolichol kinase deficiency
936:Lysosomal storage diseases
257:It can be associated with
159:), and sometimes even the
29:
1288:Von Hippel–Lindau disease
1224:Creutzfeldt–Jakob disease
377:, are often recommended.
213:GlcNAc phosphotransferase
187:(middle ear infections),
97:lysosomal storage disease
27:Lysosomal storage disease
1363:Ehlers–Danlos syndrome 6
701:"Yash Gandhi Foundation"
197:congestive heart failure
50:Mucolipidosis II (ML II)
1305:Deubiquitinating enzyme
1189:Retinitis pigmentosa 33
1143:Diamond–Blackfan anemia
944:carbohydrate metabolism
549:Champe, Pamela (2004).
395:non-profit organization
263:dilative cardiomyopathy
1309:Machado–Joseph disease
1016:Aspartylglucosaminuria
995:I-cell disease (ML II)
877:lipid-storage-diseases
705:Yash Gandhi Foundation
391:bone marrow transplant
350:Low concentrations of
238:to target them to the
234:within cells. Without
228:N-linked glycoproteins
193:carpal tunnel syndrome
87:, also referred to as
32:Martin Luther King Jr.
1067:solute carrier family
207:I-cell disease is an
133:mucopolysaccharidosis
1314:Aneurysmal bone cyst
1219:Huntington's disease
344:in peripheral blood
309:amniotic fluid cells
288:. In Hurler's, only
145:developmental delays
1358:Hyperproinsulinemia
1214:Alzheimer's disease
278:mannose-6-phosphate
272:which would cleave
248:extracellular space
236:mannose-6-phosphate
224:mannose-6-phosphate
209:autosomal recessive
1155:Fragile X syndrome
1033:Alpha-mannosidosis
826:External resources
414:"mucolipidosis II"
292:would be present.
290:glycosaminoglycans
282:glycosaminoglycans
127:Signs and symptoms
103:(an enzyme of the
101:phosphotransferase
95:), is part of the
1375:
1374:
1371:
1370:
1298:Angelman syndrome
1242:Protein targeting
1174:Initiation factor
1086:
1085:
1078:Galactosialidosis
1050:Schindler disease
1038:Beta-mannosidosis
983:lysosomal enzymes
871:
870:
560:978-0-7817-2265-0
356:white blood cells
331:lysosomal enzymes
270:phosphodiesterase
141:failure to thrive
74:
73:
36:Medical condition
16:(Redirected from
1400:
1202:
1113:
1106:
1099:
1090:
948:Glycoproteinoses
929:
922:
915:
906:
851:Mucolipidosis II
727:
715:
714:
712:
711:
697:
691:
690:
688:
687:
678:. Archived from
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666:
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663:
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633:
632:
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629:
620:. Archived from
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571:
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521:Le, Tao (2014).
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512:
511:
505:
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484:Medical genetics
479:
473:
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437:
428:
422:
411:
379:Physical therapy
342:inclusion bodies
324:lysosomal enzyme
322:Elevated plasma
89:mucolipidosis II
61:Medical genetics
39:
21:
18:Mucolipidosis II
1408:
1407:
1403:
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1399:
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1206:Protein folding
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582:(10): 1109–12.
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313:chorionic villi
298:
286:Hurler Syndrome
232:Golgi apparatus
205:
203:Pathophysiology
137:Hurler syndrome
129:
117:Golgi apparatus
105:Golgi apparatus
37:
34:
28:
23:
22:
15:
12:
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5:
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1250:I-cell disease
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959:
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887:I cell disease
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730:Classification
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722:External links
720:
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588:10.1038/nm1305
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383:speech therapy
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363:
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327:
326:concentrations
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303:Before birth:
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217:phosphorylates
204:
201:
128:
125:
77:Inclusion-cell
72:
71:
68:
64:
63:
58:
52:
51:
48:
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42:I-cell disease
35:
26:
24:
14:
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6:
4:
3:
2:
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1393:Rare diseases
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1230:chaperonins:
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1119:Disorders of
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1072:Salla disease
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991:Mucolipidosis
989:
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979:
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954:
949:
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940:Inborn errors
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901:
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895:Rare Diseases
893:'s Office of
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682:on 2010-06-20
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624:on 2012-02-26
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532:9780071831420
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493:9780323053730
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447:(3): 236–44.
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155:) or spleen (
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49:
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33:
19:
1293:3-M syndrome
1249:
1147:
1065:
1027:mannosidosis
1025:
994:
875:
855:
844:
833:
809:
798:
787:
772:
757:
742:
708:. Retrieved
704:
695:
684:. Retrieved
680:the original
670:
659:. Retrieved
655:
626:. Retrieved
622:the original
612:
579:
575:
569:
550:
522:
516:
483:
477:
444:
441:Clin. Genet.
439:
426:
417:
409:
365:
340:Presence of
333:in cultured
318:In infants:
317:
302:
299:
267:
256:
222:residues to
206:
185:otitis media
165:motor skills
161:heart valves
157:splenomegaly
153:hepatomegaly
130:
92:
88:
84:
80:
76:
75:
1132:Translation
1121:translation
1021:Fucosidosis
846:GeneReviews
346:lymphocytes
335:fibroblasts
47:Other names
1382:Categories
1045:Sialidosis
1009:Catabolism
811:DiseasesDB
710:2023-09-25
686:2009-12-01
661:2017-11-02
628:2009-09-16
401:References
252:Hydrolases
189:bronchitis
1260:Ubiquitin
956:Anabolism
835:eMedicine
502:cite book
372:vitamin B
362:Treatment
296:Diagnosis
276:from the
240:lysosomes
181:pneumonia
169:cognitive
113:lysosomes
56:Specialty
1139:Ribosome
857:Orphanet
840:ped/1150
604:24959938
596:16200072
576:Nat. Med
469:20999105
461:18190596
215:, which
177:dwarfism
805:D009081
753:5C56.20
387:corneal
265:(DCM).
246:to the
230:in the
220:mannose
135:called
121:I-cells
109:mannose
85:disease
794:252500
602:
594:
557:
529:
490:
467:
459:
274:GlcNAc
173:cornea
81:I-cell
67:Causes
1346:Other
1337:OFC10
1185:snRNP
1059:Other
882:NINDS
816:29175
783:272.7
768:E77.0
600:S2CID
465:S2CID
436:(PDF)
244:Golgi
149:joint
93:ML II
1329:SUMO
1149:FMR1
1123:and
800:MeSH
789:OMIM
778:9-CM
592:PMID
555:ISBN
527:ISBN
508:link
488:ISBN
457:PMID
370:and
368:iron
191:and
143:and
981:of
942:of
891:NIH
889:at
880:at
862:576
774:ICD
759:ICD
744:ICD
584:doi
449:doi
416:at
311:or
226:on
1384::
1307::
1281::
1279:E3
1270::
1268:E1
1187::
1176::
1141::
993::
938::
860::
849::
838::
814::
803::
792::
781::
766::
763:10
751::
748:11
703:.
654:.
637:^
598:.
590:.
580:11
578:.
541:^
504:}}
500:{{
463:.
455:.
445:73
438:.
374:12
183:,
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