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Deficiency of methylmalonyl-CoA mutase

MedGen UID:
419101
Concept ID:
C2931536
Disease or Syndrome
Synonyms: Methylmalonyl-Coenzyme A mutase deficiency
SNOMED CT: Deficiency of methylmalonyl-CoA mutase (124680001); Deficiency of methylmalonyl-coenzyme A mutase (124680001)
 

Recent clinical studies

Etiology

Ruppert T, Schumann A, Gröne HJ, Okun JG, Kölker S, Morath MA, Sauer SW
Hum Mol Genet 2015 Dec 15;24(24):7049-59. Epub 2015 Sep 29 doi: 10.1093/hmg/ddv405. PMID: 26420839
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S
J Inherit Metab Dis 2009 Oct;32(5):630. Epub 2009 Jul 31 doi: 10.1007/s10545-009-1189-6. PMID: 19642010
Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA
Pediatr Nephrol 2001 Nov;16(11):848-51. PMID: 11685586
Waggoner DJ, Ueda K, Mantia C, Dowton SB
Am J Med Genet 1998 Oct 12;79(5):373-5. PMID: 9779804
Fowler B, Giles L, Sardharwalla IB, Donnai P, Clayton JK
Prenat Diagn 1988 Mar;8(3):207-13. PMID: 2897685

Diagnosis

Kong XD, Shi HR, Liu N, Wu QH, Xu XJ, Zhao ZH, Lu N, Li-Ling J, Luo D
Genet Mol Res 2014 Oct 8;13(4):8234-40. doi: 10.4238/2014.October.8.5. PMID: 25299208
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A
Orphanet J Rare Dis 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. PMID: 25205257Free PMC Article
Imen M, Hanene B, Ichraf K, Aida R, Ilhem T, Naziha K, Neziha GK
Brain Dev 2012 Feb;34(2):113-4. Epub 2011 Jul 28 doi: 10.1016/j.braindev.2011.07.002. PMID: 21802231
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S
J Inherit Metab Dis 2009 Oct;32(5):630. Epub 2009 Jul 31 doi: 10.1007/s10545-009-1189-6. PMID: 19642010
Fowler B, Giles L, Sardharwalla IB, Donnai P, Clayton JK
Prenat Diagn 1988 Mar;8(3):207-13. PMID: 2897685

Therapy

Imen M, Hanene B, Ichraf K, Aida R, Ilhem T, Naziha K, Neziha GK
Brain Dev 2012 Feb;34(2):113-4. Epub 2011 Jul 28 doi: 10.1016/j.braindev.2011.07.002. PMID: 21802231

Prognosis

Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S
J Inherit Metab Dis 2009 Oct;32(5):630. Epub 2009 Jul 31 doi: 10.1007/s10545-009-1189-6. PMID: 19642010
Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA
Pediatr Nephrol 2001 Nov;16(11):848-51. PMID: 11685586

Clinical prediction guides

Imen M, Hanene B, Ichraf K, Aida R, Ilhem T, Naziha K, Neziha GK
Brain Dev 2012 Feb;34(2):113-4. Epub 2011 Jul 28 doi: 10.1016/j.braindev.2011.07.002. PMID: 21802231
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S
J Inherit Metab Dis 2009 Oct;32(5):630. Epub 2009 Jul 31 doi: 10.1007/s10545-009-1189-6. PMID: 19642010
Goodman SI, McCabe ER, Fennessey PV, Miles BS, Mace JW, Jellum E
Clin Chim Acta 1978 Aug 1;87(3):441-9. PMID: 28187

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