PMM2 deficiency

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PMM2 deficiency
Other namesCarbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia, Congenital Disorder of Glycosylation (CDG) Type Ia,Phosphomannomutase Deficiency [1] ,Jaeken Syndrome, PMM2-CDG , CDG1a
Protein PMM2 PDB 2amy.png
PMM2 protein

PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2 . It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3] Only about 800 children and adults have been reported worldwide. [4]

Contents

Signs and symptoms

Cause

Diagnosis

PMM2 deficiency is diagnosed through genetic sequencing. More than 115 mutations in the PMM2 gene have been found to cause this disease. [16]

Treatment

Treatment with mannose powder 1 to 2 g / kg per day results in significant improvement in protein glycosylation after 1 year. [17] Other treatments involve 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. [13]

References

  1. ↑ 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)". Nature Genetics. 16 (1): 88–92. doi:10.1038/ng0597-88. PMID   9140401. S2CID   22959423.
  2. ↑ "Congenital Disorders of Glycosylation (CDG)". Children's Hospital of Philadelphia. Retrieved 1 December 2023.
  3. ↑ "Congenital Disorders of Glycosylation (CDG)". Children's Hospital of Philadelphia. Retrieved 1 December 2023.
  4. ↑ "PMM2-CDG". Rare Diseases. National Organization for Rare Disorders (NORD). 6 August 2015 [Originally published 1996]. Retrieved 1 December 2023.
  5. ↑ 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)". Pediatric Radiology. 44 (2): 222–5. doi:10.1007/s00247-013-2782-2. PMID   24037084. S2CID   36990231.
  6. ↑ Izquierdo-Serra M, Martínez-Monseny AF, López L, Carrillo-García J, Edo A, Ortigoza-Escobar JD, et al. (February 2018). "Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy". International Journal of Molecular Sciences. 19 (2): 619. doi: 10.3390/ijms19020619 . PMC   5855841 . PMID   29470411.
  7. ↑ 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). "A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)". Orphanet Journal of Rare Diseases. 12 (1): 155. doi: 10.1186/s13023-017-0707-0 . PMC   5602850 . PMID   28915903.
  8. ↑ 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 (September 2017). "Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)". Journal of Inherited Metabolic Disease. 40 (5): 753–754. doi: 10.1007/s10545-017-0056-0 . PMID   28600669.
  9. ↑ Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, et al. (October 2015). "Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment". Orphanet Journal of Rare Diseases. 10: 138. doi: 10.1186/s13023-015-0358-y . PMC   4623922 . PMID   26502900.
  10. ↑ Barone R, Fiumara A, Jaeken J (July 2014). "Congenital disorders of glycosylation with emphasis on cerebellar involvement". Seminars in Neurology. 34 (3): 357–66. doi:10.1055/s-0034-1387197. PMID   25192513. S2CID   23836020.
  11. ↑ 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". Journal of Inherited Metabolic Disease. 40 (2): 195–207. doi:10.1007/s10545-016-0012-4. PMID   28108845. S2CID   28342989.
  12. ↑ 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". Journal of Inherited Metabolic Disease. 32 (Suppl 1): S313-9. doi:10.1007/s10545-009-1262-1. PMID   19757145. S2CID   40744073.
  13. 1 2 Sparks SE, Krasnewich DM (1993). "PMM2-CDG (CDG-Ia)". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID   20301289.
  14. 1 2 Messenger WB, Yang P, Pennesi ME (April 2014). "Ophthalmic findings in an infant with phosphomannomutase deficiency". Documenta Ophthalmologica. Advances in Ophthalmology. 128 (2): 149–53. doi:10.1007/s10633-014-9427-0. PMC   3990245 . PMID   24493206.
  15. ↑ Coorg R, Lotze TE (October 2012). "Child Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements". Neurology. 79 (15): e131-3. doi: 10.1212/WNL.0b013e31826e2617 . PMID   23045520.
  16. 1 2 "PMM2 gene". Genetics Home Reference. Retrieved 2018-03-12.
  17. ↑ Taday, Roman; Grüneberg, Marianne; DuChesne, Ingrid; Reunert, Janine; Marquardt, Thorsten (2020-09-22). "Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)". Orphanet Journal of Rare Diseases. 15 (1): 258. doi: 10.1186/s13023-020-01528-z . ISSN   1750-1172. PMC   7510076 . PMID   32962735.
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