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词条 PMM2 deficiency
释义

  1. Other names

  2. Signs and symptoms

  3. Diagnosis

  4. Treatment

  5. References

PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “congenital disorders of glycosylation” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 100 extremely rare inherited metabolic disorders. Only about 1000 children and adults have been reported worldwide.

Other names

  • Carbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia
  • Congenital Disorder of Glycosylation (CDG) Type Ia
  • Phosphomannomutase Deficiency[1]
  • Jaeken Syndrome
  • PMM2-CDG
  • CDG1a

Signs and symptoms

  • Failure to thrive (FTT) - Failure to gain weight and grow at the expected rate.[2]
  • Cerebellar hypoplasia - Small cerebellum, which is the part of the brain that coordinates movement.[3][4][5][6][7]
  • Liver disease - Elevated liver function tests.[8]
  • Pericardial effusion - Fluid around the heart.[9]
  • Peripheral neuropathy (PN) - Impaired nerve impulse transmission to the legs. Patients do not respond well to reflex tests.[10]
  • Strabismus - Crossed eyes, mainly presented as infantile Esotropia[11]
  • Nystagmus - Involuntary eye movements caused by Cerebellar ataxia.[11][12]
  • Hypotonia - Weak muscle tone, commonly known as floppy baby syndrome.[14]

Diagnosis

PMM2 deficiency is diagnosed through genetic sequencing. More than 115 mutations in PMM2 gene have been found to cause this disease.[13]

Treatment

There is no cure for PMM2 deficiency. Treatment involves management of the symptoms that are apparent in each individual, including Physical Therapy to improve core strength and mobility, Occupational Therapy for coordination, Speech Therapy for talking and eating.[10]

References

1. ^{{cite journal | vauthors = Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E | title = Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) | journal = Nature Genetics | volume = 16 | issue = 1 | pages = 88–92 | date = May 1997 | pmid = 9140401 | doi = 10.1038/ng0597-88 }}
2. ^{{cite journal | vauthors = Al-Maawali AA, Miller E, Schulze A, Yoon G, Blaser SI | title = Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a) | journal = Pediatric Radiology | volume = 44 | issue = 2 | pages = 222–5 | date = February 2014 | pmid = 24037084 | doi = 10.1007/s00247-013-2782-2 }}
3. ^{{cite journal | vauthors = Izquierdo-Serra M, Martínez-Monseny AF, López L, Carrillo-García J, Edo A, Ortigoza-Escobar JD, García Ó, Cancho-Candela R, Carrasco-Marina ML, Gutiérrez-Solana LG, Cuadras D, Muchart J, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Macaya A, Fernández-Fernández JM, Serrano M | display-authors = 6 | title = Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy | journal = International Journal of Molecular Sciences | volume = 19 | issue = 2 | date = February 2018 | pmid = 29470411 | doi = 10.3390/ijms19020619 }}
4. ^{{cite journal | vauthors = 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 | title = A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) | journal = Orphanet Journal of Rare Diseases | volume = 12 | issue = 1 | pages = 155 | date = September 2017 | pmid = 28915903 | pmc = 5602850 | doi = 10.1186/s13023-017-0707-0 }}
5. ^{{cite journal | vauthors = de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M | title = Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) | journal = Journal of Inherited Metabolic Disease | volume = 40 | issue = 5 | pages = 753–754 | date = September 2017 | pmid = 28600669 | doi = 10.1007/s10545-017-0056-0 }}
6. ^{{cite journal | vauthors = Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B | display-authors = 6 | title = Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment | journal = Orphanet Journal of Rare Diseases | volume = 10 | pages = 138 | date = October 2015 | pmid = 26502900 | pmc = 4623922 | doi = 10.1186/s13023-015-0358-y }}
7. ^{{cite journal | vauthors = Barone R, Fiumara A, Jaeken J | title = Congenital disorders of glycosylation with emphasis on cerebellar involvement | journal = Seminars in Neurology | volume = 34 | issue = 3 | pages = 357–66 | date = July 2014 | pmid = 25192513 | doi = 10.1055/s-0034-1387197 }}
8. ^{{cite journal | vauthors = Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D | title = Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature | journal = Journal of Inherited Metabolic Disease | volume = 40 | issue = 2 | pages = 195–207 | date = March 2017 | pmid = 28108845 | doi = 10.1007/s10545-016-0012-4 }}
9. ^{{cite journal | vauthors = Footitt EJ, Karimova A, Burch M, Yayeh T, Dupré T, Vuillaumier-Barrot S, Chantret I, Moore SE, Seta N, Grunewald S | title = Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review | journal = Journal of Inherited Metabolic Disease | volume = 32 Suppl 1 | pages = S313-9 | date = December 2009 | pmid = 19757145 | doi = 10.1007/s10545-009-1262-1 }}
10. ^1 {{Cite book|url=https://www.ncbi.nlm.nih.gov/books/NBK1110/|title=GeneReviews®|last=Sparks|first=Susan E.|last2=Krasnewich|first2=Donna M.|date=1993|publisher=University of Washington, Seattle|editor-last=Adam|editor-first=Margaret P.|location=Seattle (WA)|pmid=20301289|editor-last2=Ardinger|editor-first2=Holly H.|editor-last3=Pagon|editor-first3=Roberta A.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Bean|editor-first5=Lora JH|editor-last6=Stephens|editor-first6=Karen|editor-last7=Amemiya|editor-first7=Anne | name-list-format = vanc }}
11. ^1 {{cite journal | vauthors = Messenger WB, Yang P, Pennesi ME | title = Ophthalmic findings in an infant with phosphomannomutase deficiency | journal = Documenta Ophthalmologica. Advances in Ophthalmology | volume = 128 | issue = 2 | pages = 149–53 | date = April 2014 | pmid = 24493206 | pmc = 3990245 | doi = 10.1007/s10633-014-9427-0 }}
12. ^{{cite journal | vauthors = Coorg R, Lotze TE | title = Child Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements | journal = Neurology | volume = 79 | issue = 15 | pages = e131-3 | date = October 2012 | pmid = 23045520 | doi = 10.1212/WNL.0b013e31826e2617 }}
13. ^1 {{Cite web|url=https://ghr.nlm.nih.gov/gene/PMM2#conditions|title=PMM2 gene|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2018-03-12}}

1 : Genetic diseases and disorders
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