37:
157:
Treatment with mannose powder 1 to 2 g / kg per day results in significant improvement in protein glycosylation after 1 year. Other treatments involve management of the symptoms that are apparent in each individual, including physical therapy to improve core strength and mobility, occupational
619:
Footitt EJ, Karimova A, Burch M, Yayeh T, Dupré T, Vuillaumier-Barrot S, Chantret I, Moore SE, Seta N, Grunewald S (December 2009). "Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review".
175:
Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van
Schaftingen E (May 1997). "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)".
575:
Marques-da-Silva D, Dos Reis
Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D (March 2017). "Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature".
75:
or CDG. PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. Only about 800 children and adults have been reported worldwide.
295:
Al-Maawali AA, Miller E, Schulze A, Yoon G, Blaser SI (February 2014). "Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)".
30:
Carbohydrate-deficient
Glycoprotein Syndrome (CDGS) Type Ia, Congenital Disorder of Glycosylation (CDG) Type Ia,Phosphomannomutase Deficiency,Jaeken Syndrome, PMM2-CDG , CDG1a
389:
Serrano NL, De Diego V, Cuadras D, Martinez
Monseny AF, Velázquez-Fragua R, López L, Felipe A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M (September 2017).
440:
de Diego V, MartĂnez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, PĂ©rez-Cerdá C, PĂ©rez B, PĂ©rez-Dueñas B, Poretti A, Serrano M (September 2017).
442:"Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)"
883:
340:"Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy"
878:
391:"A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)"
338:
Izquierdo-Serra M, MartĂnez-Monseny AF, LĂłpez L, Carrillo-GarcĂa J, Edo A, Ortigoza-Escobar JD, et al. (February 2018).
532:
Barone R, Fiumara A, Jaeken J (July 2014). "Congenital disorders of glycosylation with emphasis on cerebellar involvement".
72:
244:
219:
813:
Taday, Roman; GrĂĽneberg, Marianne; DuChesne, Ingrid; Reunert, Janine; Marquardt, Thorsten (2020-09-22).
111:- Impaired nerve impulse transmission to the legs. Patients do not respond well to reflex tests.
481:
Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, et al. (October 2015).
108:
90:
102:
8:
670:. In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.).
145:
PMM2 deficiency is diagnosed through genetic sequencing. More than 115 mutations in the
849:
814:
722:
697:
645:
601:
557:
509:
482:
417:
390:
366:
339:
320:
201:
854:
836:
768:
727:
675:
637:
593:
549:
514:
463:
422:
371:
312:
193:
127:
84:
747:"Child Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements"
649:
605:
561:
324:
205:
844:
826:
758:
717:
709:
629:
585:
541:
504:
494:
453:
412:
402:
361:
351:
337:
304:
269:
185:
62:
574:
763:
746:
831:
815:"Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)"
789:
713:
667:
633:
589:
499:
458:
441:
407:
308:
872:
840:
96:
93:- Small cerebellum, which is the part of the brain that coordinates movement.
483:"Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment"
858:
772:
731:
679:
641:
597:
553:
545:
518:
467:
426:
375:
316:
197:
356:
36:
114:
71:. It is an autosomal recessive disease that is the most common type of
439:
388:
189:
698:"Ophthalmic findings in an infant with phosphomannomutase deficiency"
133:
123:
118:
174:
276:. National Organization for Rare Disorders (NORD). 6 August 2015
158:
therapy for coordination, speech therapy for talking and eating.
812:
480:
294:
136:- Weak muscle tone, commonly known as floppy baby syndrome.
67:
618:
87:- Failure to gain weight and grow at the expected rate.
702:
695:
674:. Seattle (WA): University of Washington, Seattle.
531:
691:
689:
870:
665:
696:Messenger WB, Yang P, Pennesi ME (April 2014).
686:
661:
659:
117:- Crossed eyes, mainly presented as infantile
245:"Congenital Disorders of Glycosylation (CDG)"
220:"Congenital Disorders of Glycosylation (CDG)"
149:gene have been found to cause this disease.
656:
344:International Journal of Molecular Sciences
744:
35:
848:
830:
762:
721:
508:
498:
457:
416:
406:
365:
355:
871:
784:
782:
622:Journal of Inherited Metabolic Disease
578:Journal of Inherited Metabolic Disease
446:Journal of Inherited Metabolic Disease
126:- Involuntary eye movements caused by
884:Congenital disorders of glycosylation
78:
73:congenital disorder of glycosylation
779:
249:Children's Hospital of Philadelphia
224:Children's Hospital of Philadelphia
13:
745:Coorg R, Lotze TE (October 2012).
14:
895:
819:Orphanet Journal of Rare Diseases
666:Sparks SE, Krasnewich DM (1993).
487:Orphanet Journal of Rare Diseases
395:Orphanet Journal of Rare Diseases
99:- Elevated liver function tests.
806:
738:
612:
568:
525:
879:Genetic diseases and disorders
474:
433:
382:
331:
288:
262:
237:
212:
168:
1:
161:
764:10.1212/WNL.0b013e31826e2617
152:
140:
7:
10:
900:
832:10.1186/s13023-020-01528-z
109:Peripheral neuropathy (PN)
714:10.1007/s10633-014-9427-0
634:10.1007/s10545-009-1262-1
590:10.1007/s10545-016-0012-4
500:10.1186/s13023-015-0358-y
459:10.1007/s10545-017-0056-0
408:10.1186/s13023-017-0707-0
309:10.1007/s00247-013-2782-2
105:- Fluid around the heart.
43:
34:
26:
21:
794:Genetics Home Reference
85:Failure to thrive (FTT)
65:caused by mutations in
546:10.1055/s-0034-1387197
534:Seminars in Neurology
91:Cerebellar hypoplasia
357:10.3390/ijms19020619
103:Pericardial effusion
668:"PMM2-CDG (CDG-Ia)"
628:(Suppl 1): S313-9.
297:Pediatric Radiology
79:Signs and symptoms
190:10.1038/ng0597-88
128:cerebellar ataxia
61:, is a very rare
48:
47:
16:Medical condition
891:
863:
862:
852:
834:
810:
804:
803:
801:
800:
786:
777:
776:
766:
742:
736:
735:
725:
693:
684:
683:
663:
654:
653:
616:
610:
609:
572:
566:
565:
529:
523:
522:
512:
502:
478:
472:
471:
461:
437:
431:
430:
420:
410:
386:
380:
379:
369:
359:
335:
329:
328:
292:
286:
285:
283:
281:
266:
260:
259:
257:
255:
241:
235:
234:
232:
230:
216:
210:
209:
172:
63:genetic disorder
39:
19:
18:
899:
898:
894:
893:
892:
890:
889:
888:
869:
868:
867:
866:
811:
807:
798:
796:
788:
787:
780:
743:
739:
694:
687:
664:
657:
617:
613:
573:
569:
530:
526:
479:
475:
438:
434:
387:
383:
336:
332:
293:
289:
279:
277:
268:
267:
263:
253:
251:
243:
242:
238:
228:
226:
218:
217:
213:
178:Nature Genetics
173:
169:
164:
155:
143:
81:
51:PMM2 deficiency
22:PMM2 deficiency
17:
12:
11:
5:
897:
887:
886:
881:
865:
864:
805:
778:
757:(15): e131-3.
737:
685:
655:
611:
584:(2): 195–207.
567:
524:
473:
452:(5): 753–754.
432:
381:
330:
287:
261:
236:
211:
166:
165:
163:
160:
154:
151:
142:
139:
138:
137:
131:
121:
112:
106:
100:
94:
88:
80:
77:
46:
45:
41:
40:
32:
31:
28:
24:
23:
15:
9:
6:
4:
3:
2:
896:
885:
882:
880:
877:
876:
874:
860:
856:
851:
846:
842:
838:
833:
828:
824:
820:
816:
809:
795:
791:
785:
783:
774:
770:
765:
760:
756:
752:
748:
741:
733:
729:
724:
719:
715:
711:
708:(2): 149–53.
707:
703:
699:
692:
690:
681:
677:
673:
669:
662:
660:
651:
647:
643:
639:
635:
631:
627:
623:
615:
607:
603:
599:
595:
591:
587:
583:
579:
571:
563:
559:
555:
551:
547:
543:
540:(3): 357–66.
539:
535:
528:
520:
516:
511:
506:
501:
496:
492:
488:
484:
477:
469:
465:
460:
455:
451:
447:
443:
436:
428:
424:
419:
414:
409:
404:
400:
396:
392:
385:
377:
373:
368:
363:
358:
353:
349:
345:
341:
334:
326:
322:
318:
314:
310:
306:
302:
298:
291:
275:
274:Rare Diseases
271:
265:
250:
246:
240:
225:
221:
215:
207:
203:
199:
195:
191:
187:
183:
179:
171:
167:
159:
150:
148:
135:
132:
129:
125:
122:
120:
116:
113:
110:
107:
104:
101:
98:
97:Liver disease
95:
92:
89:
86:
83:
82:
76:
74:
70:
69:
64:
60:
57:, previously
56:
52:
42:
38:
33:
29:
25:
20:
822:
818:
808:
797:. Retrieved
793:
754:
750:
740:
705:
701:
672:GeneReviews®
671:
625:
621:
614:
581:
577:
570:
537:
533:
527:
490:
486:
476:
449:
445:
435:
398:
394:
384:
347:
343:
333:
303:(2): 222–5.
300:
296:
290:
278:. Retrieved
273:
264:
252:. Retrieved
248:
239:
227:. Retrieved
223:
214:
184:(1): 88–92.
181:
177:
170:
156:
146:
144:
66:
58:
54:
50:
49:
44:PMM2 protein
790:"PMM2 gene"
27:Other names
873:Categories
825:(1): 258.
799:2018-03-12
401:(1): 155.
350:(2): 619.
280:1 December
270:"PMM2-CDG"
254:1 December
229:1 December
162:References
115:Strabismus
841:1750-1172
751:Neurology
153:Treatment
141:Diagnosis
134:Hypotonia
124:Nystagmus
119:esotropia
859:32962735
773:23045520
732:24493206
680:20301289
650:40744073
642:19757145
606:28342989
598:28108845
562:23836020
554:25192513
519:26502900
468:28600669
427:28915903
376:29470411
325:36990231
317:24037084
206:22959423
55:PMM2-CDG
850:7510076
723:3990245
510:4623922
493:: 138.
418:5602850
367:5855841
198:9140401
857:
847:
839:
771:
730:
720:
678:
648:
640:
604:
596:
560:
552:
517:
507:
466:
425:
415:
374:
364:
323:
315:
204:
196:
59:CDG-Ia
646:S2CID
602:S2CID
558:S2CID
321:S2CID
202:S2CID
855:PMID
837:ISSN
769:PMID
728:PMID
676:PMID
638:PMID
594:PMID
550:PMID
515:PMID
464:PMID
423:PMID
372:PMID
313:PMID
282:2023
256:2023
231:2023
194:PMID
147:PMM2
68:PMM2
845:PMC
827:doi
759:doi
718:PMC
710:doi
706:128
630:doi
586:doi
542:doi
505:PMC
495:doi
454:doi
413:PMC
403:doi
362:PMC
352:doi
305:doi
186:doi
53:or
875::
853:.
843:.
835:.
823:15
821:.
817:.
792:.
781:^
767:.
755:79
753:.
749:.
726:.
716:.
704:.
700:.
688:^
658:^
644:.
636:.
626:32
624:.
600:.
592:.
582:40
580:.
556:.
548:.
538:34
536:.
513:.
503:.
491:10
489:.
485:.
462:.
450:40
448:.
444:.
421:.
411:.
399:12
397:.
393:.
370:.
360:.
348:19
346:.
342:.
319:.
311:.
301:44
299:.
272:.
247:.
222:.
200:.
192:.
182:16
180:.
861:.
829::
802:.
775:.
761::
734:.
712::
682:.
652:.
632::
608:.
588::
564:.
544::
521:.
497::
470:.
456::
429:.
405::
378:.
354::
327:.
307::
284:.
258:.
233:.
208:.
188::
130:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
