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PMM2 deficiency

April 14, 2024

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]

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
PMM2 protein

Signs and symptoms edit

Diagnosis edit

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

Treatment edit

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 edit

  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. ^ a b 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. ^ a b 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. ^ a b "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.

April 14, 2024
pmm2, deficiency, pmm2, previously, very, rare, genetic, disorder, caused, mutations, pmm2, autosomal, recessive, disease, that, most, common, type, congenital, disorder, glycosylation, pmm2, most, common, growing, family, more, than, extremely, rare, inherite. 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 PMM2 deficiencyOther namesCarbohydrate deficient Glycoprotein Syndrome CDGS Type Ia Congenital Disorder of Glycosylation CDG Type Ia Phosphomannomutase Deficiency 1 Jaeken Syndrome PMM2 CDG CDG1aPMM2 protein Contents 1 Signs and symptoms 2 Diagnosis 3 Treatment 4 ReferencesSigns and symptoms editFailure to thrive FTT Failure to gain weight and grow at the expected rate 5 Cerebellar hypoplasia Small cerebellum which is the part of the brain that coordinates movement 6 7 8 9 10 Liver disease Elevated liver function tests 11 Pericardial effusion Fluid around the heart 12 Peripheral neuropathy PN Impaired nerve impulse transmission to the legs Patients do not respond well to reflex tests 13 Strabismus Crossed eyes mainly presented as infantile esotropia 14 Nystagmus Involuntary eye movements caused by cerebellar ataxia 14 15 Hypotonia Weak muscle tone commonly known as floppy baby syndrome 16 Diagnosis editPMM2 deficiency is diagnosed through genetic sequencing More than 115 mutations in the PMM2 gene have been found to cause this disease 16 Treatment editTreatment 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 edit 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 Congenital Disorders of Glycosylation CDG Children s Hospital of Philadelphia Retrieved 1 December 2023 Congenital Disorders of Glycosylation CDG Children s Hospital of Philadelphia Retrieved 1 December 2023 PMM2 CDG Rare Diseases National Organization for Rare Disorders NORD 6 August 2015 Originally published 1996 Retrieved 1 December 2023 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 Izquierdo Serra M Martinez Monseny AF Lopez L Carrillo Garcia 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 Serrano NL De Diego V Cuadras D Martinez Monseny AF Velazquez Fragua R Lopez L Felipe A Gutierrez Solana LG Macaya A Perez Duenas 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 de Diego V Martinez Monseny AF Muchart J Cuadras D Montero R Artuch R Perez Cerda C Perez B Perez Duenas 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 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 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 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 Footitt EJ Karimova A Burch M Yayeh T Dupre 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 a b 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 a b 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 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 a b PMM2 gene Genetics Home Reference Retrieved 2018 03 12 Taday Roman Gruneberg 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 Retrieved from https en wikipedia org w index php title PMM2 deficiency amp oldid 1188091664, wikipedia, wiki, book, books, library,

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