Optic neuropathy in classical methylmalonic acidemia

References

• Chandler RJ, Venditti CP. Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab. 2005;86(1–2):34–43. doi:10.1016/j.ymgme.2005.07.020. Cited in PubMed; PMID:16182581.
   PubMed Web of Science ®Google Scholar
• Knerr I, Weinhold N, Vockley J, Gibson KM. Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. J Inherit Metab Dis. 2012;35(1):29–40. doi:10.1007/s10545-010-9269-1. Cited in PubMed; PMID:21290185.
   PubMed Web of Science ®Google Scholar
• Tanpaiboon P. Methylmalonic acidemia (MMA). Mol Genet Metab. 2005;85(1):2–6. Cited in PubMed; PMID:15959932.
   PubMedGoogle Scholar
• Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 2005Aug 16 [Updated 2016 Dec 1]. p. 1993–2017. https://www.ncbi.nlm.nih.gov/books/NBK1231/ accessed 2017 Dec. Cited in PubMed; PMID:20301409.
   Google Scholar
• Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: clinical management update. Curr Opin Pediatr. 2016;28(6):682–93. demonstrate evidence of benefit in a controlled manner. doi:10.1097/MOP.0000000000000422. Cited in PubMed; PMID:27653704…
   PubMed Web of Science ®Google Scholar
• Al-Owain M, Al-Zaidan H, Al-Hassnan Z. Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions. Am J Med Genet. 2012;158A(10):2629–40. doi:10.1002/ajmg.a.35551. Cited in PubMed; PMID:22903695.
   PubMed Web of Science ®Google Scholar
• El-Mouzan MI, Al-Salloum AA, Al-Herbish AS, Qurachi MM, Al-Omar AA. Regional variations in the prevalence of consanguinity in Saudi Arabia. Saudi Med J. 2007;28(12):1881–84. Cited in PubMed; PMID:18060221.
   PubMed Web of Science ®Google Scholar
• Al Fadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Al Sayed M, Rahbeeni Z, Al Zaidan H, Al Owain M, Al Hassnan Z, Saeedi M, et al. Expanded newborn screening program in Saudi Arabia: incidence of screened disorders. J Paediatr Child Health. 2017;53(6):585–91. doi:10.1111/jpc.13469. Cited in PubMed; PMID:28337809.
   PubMed Web of Science ®Google Scholar
• Marquard J, El Scheich T, Klee D, Schmitt M, Meissner T, Mayatepek E, Oh J. Chronic pancreatitis in branched-chain organic acidurias – a case of methylmalonic aciduria and an overview of the literature. Eur J Pediatr. 2011;170(2):241–45. doi:10.1007/s00431-010-1313-5. Cited in PubMed; PMID:20924605.
   PubMed Web of Science ®Google Scholar
• Walter JH, Michalski A, Wilson WM, Leonard JV, Barratt TM, Dillon MJ. Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr. 1989;148:344–48. Cited in PubMed; PMID:2707280 doi:10.1007/BF00444131.
   PubMed Web of Science ®Google Scholar
• Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP. Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB Journal. 2009;23(4):1252–61. doi:10.1096/fj.08-121848. Cited in PubMed; PMID:19088183.
   PubMed Web of Science ®Google Scholar
• Kanaumi T, Takashima S, Hirose S, Kodama IH. Neuropathology of methylmalonic acidemia in a child. Pediatr Neurol. 2006;34(2):156–59. doi:10.1016/j.pediatrneurol.2005.07.006. Cited in PubMed; PMID:16458832.
   PubMed Web of Science ®Google Scholar
• Yamaguchi K, Hirabayashi K, Honma K. Methylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) type. Clin Neuropathol. 1995;14(4):216–22. Cited in PubMed; PMID:8521625.
   PubMed Web of Science ®Google Scholar
• Baker EH, Sloan JL, Hauser NS, Gropman AL, Adams DR, Toro C, Manoli I, Venditti CP. MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia. AJNR Am J Neuroradiol. 2015;36(1):194–201. doi:10.3174/ajnr.A4087. Cited in PubMed; PMID:25190203.
   PubMed Web of Science ®Google Scholar
• Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, et al. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Orphanet J Rare Dis. 2013;23(8):148. doi:10.1186/1750-1172-8-148. Cited in PubMed; PMID:24059531.
   Google Scholar
• O’Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, Snow J. Neurocognitive phenotype of isolated methylmalonic acidemia. Pediatrics. 2012;129(6):e1541–e1551. doi:10.1542/peds.2011-1715. Cited in PubMed; PMID:22614770.
   PubMed Web of Science ®Google Scholar
• Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015;38(6):1059–74. doi:10.1007/s10545-015-9840-x. Cited in PubMed; PMID:25875216.
   PubMed Web of Science ®Google Scholar
• Wasserstein MP, Gaddipati S, Snyderman SE, Eddleman K, Desnick RJ, Sansaricq C. Successful pregnancy in severe methylmalonic acidaemia. J Inherit Metab Dis. 1999;22(7):788–94. Cited in PubMed; PMID:10518278.
   PubMed Web of Science ®Google Scholar
• Williams ZR, Hurley PE, Altiparmak UE, Feldon SE, Arnold GL, Eggenberger E, Mejico LJ. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol. 2009;147(5):929–33. doi:10.1016/j.ajo.2008.12.024. Cited in PubMed; PMID:19243738.
   PubMed Web of Science ®Google Scholar
• Pinar-Sueiro S, Martinez-Fernandez R, Lage-Medina S, Aldamiz-Echevarria L, Vecino E. Optic neuropathy in methylmalonic acidemia: the role of neuroprotection. J Inherit Metab Dis. 2010;33(Suppl 3):S199–S203. doi:10.1007/s10545-010-9084-8. Cited in PubMed; PMID:20449661.
   PubMed Web of Science ®Google Scholar
• Traber G, Baumgartner MR, Schwarz U, Pangalu A, Donath MY, Landau K. Subacute bilateral visual loss in methylmalonic acidemia. J Neuroophthalmol. 2011;31(4):344–46. doi:10.1097/WNO.0b013e31822db480. Cited in PubMed; PMID:21873889.
   PubMed Web of Science ®Google Scholar
• Dejkhamron P, Wejapikul K, Unachak K, Sawangareetrakul P, Tanpaiboon P, Wattanasirichaigoon D. Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. J Pediatr Endocrinol Metab. 2016;29(3):373–78. doi:10.1515/jpem-2015-0228. Cited in PubMed; PMID:26581066.
   PubMed Web of Science ®Google Scholar
• Martinez Alvarez L, Jameson E, Parry NR, Lloyd C, Ashworth JL. Optic neuropathy in methylmalonic acidemia and propionic acidemia. Br J Ophthalmol. 2016;100(1):98–104. doi:10.1136/bjophthalmol-2015-306798. Cited in PubMed; PMID:26209586.
   PubMed Web of Science ®Google Scholar
• Hauser NS, Zein WM, Sloan JL, Manoli I, Bowles K, Brook BP, O’Brien K, Brooks BP, Venditti CP. Methylmalonic acidemia and optic nerve atrophy. Reversal of subacute loss of visual function with antioxidant therapy. Mol Genet Metab. 2011 [accessed 2018 Apr 6];102(3): 288–89. https://ac-els-cdn-com.elibrary.einstein.yu.edu/S1096719210005536/1-s2.0-S1096719210005536-main.pdf?_tid=55610cc7-602c-4c01-b10d-97863541e27d&acdnat=1543933646_1b4f489ffcecc4b8ce7906f32b21d5eb
   Web of Science ®Google Scholar
• Manoli I, Zein WM, Sloan JL, Harrington E, Wang Y, Zhang J, Brooks BP, Hamosh A, Chan CC, Venditti P, Optic nerve atrophy in methylmalonic acidemia (MMA): natural history, pathological findings and experience with anti-oxidant therapy. American Society of Human Genetics (ASHG) Meeting, San Diego, CA. October 2014 [accessed 2018 Apr 6]. http://www.ashg.org/2014meeting/abstracts/fulltext/f140121465.htm
   Google Scholar
• Yildiz Y, Kalayci D, Bilginer Gurbuz B, Pektas E, Dursun A, Sivri HS, Coskun T, Tokatli A. Optic neuropathy: a rare, late complication in methylmalonic acidemia. J Inherit Metab Dis. 2016 [accessed April 6 2018];39(supplement 1 (S129)): Abstract. J Inherit Metab Dis (2016) 39(Suppl1): 35. https://doi-org.elibrary.einstein.yu.edu/10.1007/s10545-016-9969-2
   Google Scholar
• Jin H, Zou LP, Zhang CH, Fang F, Xiao J, Wu HS, Zhu C, Guo W, Jin Z. Diagnosis and treatment of methylmalonic acidemia in 14 cases. Chin J Pediatr. 2004;42(8):581–581. Cited in PubMed; PMID:15347443. [Article in Chinese].
   Google Scholar
• Ye J, Li CJ, Liu JH. A clinical analysis of methylmalonic acidemia in adolescents. Chin J Intern Med. 2008;47(10):823–25. Cited in PubMed; PMID:19080141. [Article in Chinese].
   PubMedGoogle Scholar
• Brooks BP, Thompson AH, Sloan JL, Manoli I, Carrillo-Carrasco N, Zein WM, Venditti CP. Ophthalmic manifestations and long-term visual outcomes in patients with cobalamin C deficiency. Ophthalmology. 2016;123(3):571–82. doi:10.1016/j.ophtha.2015.10.041. Cited in PubMed; PMID:26825575.
   PubMed Web of Science ®Google Scholar
• Carrillo-Carrasco N, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. J Inherit Metab Dis. 2012;35(1):103–14. doi:10.1007/s10545-011-9365-x. Cited in PubMed; PMID:21748408.
   PubMed Web of Science ®Google Scholar
• Arias C, Raimann E, Peredo P, Cabello JF, Castro G, Valiente A, de la Parra A, Bravo P, Okuma C, Cornejo V. Propionic acidemia and optic neuropathy: a report of two cases. JIMD Rep. 2014;12:1–4. doi:10.1007/8904_2013_234. Cited in PubMed; PMID:23818179.
   PubMedGoogle Scholar
• Ianchulev T, Kolin T, Moseley K, Sadun A. Optic nerve atrophy in propionic acidemia. Ophthalmology. 2003;110(9):1850–54. doi:10.1016/S0161-6420(03)00573-6. Cited in PubMed; PMID:13129889.
   PubMed Web of Science ®Google Scholar
• Noval S, Lopez-Rodriguez M, Gonzalez-Sanchez E, Contreras I, Royo A, Boto-De-Los-Bueis A. Late optic neuropathy in propionic acidemia following surgical intervention. J Neuroophthalmol. 2013;33(1):90–91. doi:10.1097/WNO.0b013e318273c03b. Cited in PubMed; PMID:23149616.
   PubMed Web of Science ®Google Scholar
• Hugosson T, Friedman JS, Ponjavic V, Abrahamson M, Swaroop A, Andréasson S. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. Arch Ophthalmol. 2010;128(6):772–78. doi:10.1001/archophthalmol.2010.98. Cited in PubMed; PMID:20547956.
   PubMedGoogle Scholar
• Blair Y, Eggenberger E, Kaufman D. Current electrophysiology in ophthalmology: a review. Curr Opin Ophthalmol. 2012 [accessed 2017 Dec];23(6):497–505. doi:10.1097/ICU.0b013e328359045e. Cited in PubMed; PMID:23047167.
   PubMed Web of Science ®Google Scholar
• de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chrétien D, Chadefeaux-Vekemans B, Niaudet P, Touati G, et al. Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr Res. 2009;66(1):91–95. doi:10.1203/PDR.0b013e3181a7c270. Cited in PubMed; PMID:19342984.
   PubMed Web of Science ®Google Scholar