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Original Research

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series

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Pages 549-555 | Published online: 21 Feb 2019

References

  • Carrillo-CarrascoNChandlerRJVendittiCPCombined methylmalonic acidemia and homocystinuria, cblC type. I. clinical presentations, diagnosis and managementJ Inherit Metab Dis20123519110221748409
  • Lerner-EllisJPTironeJCPawelekPDIdentification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC typeNat Genet20063819310016311595
  • MuddSHLevyHLAbelesRHJennedyJPA derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduriaBiochem Biophys Res Commun19693511211265779140
  • HuemerMDiodatoDSchwahnBGuidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyJ Inherit Metab Dis2017401214827905001
  • KimJGherasimCBanerjeeRDecyanation of vitamin B12 by a trafficking chaperoneProc Natl Acad Sci U S A200810538145511455418779575
  • WangFHanLYangYClinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in ChinaJ Inherit Metab Dis201033S3435442
  • Weisfeld-AdamsJDMorrisseyMAKirmseBMNewborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyteMol Genet Metab201099211612319836982
  • HanBCaoZTianLClinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong Province, ChinaBrain Dev201638549149726563984
  • GuoKZhouXChenXWuYLiuCKongQExpanded newborn screening for inborn errors of metabolism and genetic characteristics in a Chinese populationFront Genet2018912229731766
  • ShinnarSSingerHSCobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathyN Engl J Med198431174514546749192
  • HuemerMScholl-BürgiSHadayaKThree new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancyOrphanet J Rare Dis2014916125398587
  • LiuYRJiYFWangYLClinical analysis of late-onset methylmalonic acidaemia and homocystinuria, cblC type with a neuropsychiatric presentationJ Neurol Neurosurg Psychiatry201586447247525091368
  • DeodatoFBoenziSRizzoCDionisi-ViciCThe clinical picture of early-onset cobalamin C defect (methylmalonic aciduria and homocystinuria)Paediatr Child Health2008181S57S60
  • NogueiraCAielloCCeroneRSpectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC typeMol Genet Metab200893447548018164228
  • WangXSunWYangYJiaJLiCLiCA clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in ChinaJ Neurol Sci20123181–215515922560872
  • WangSJYanCZLiuYMZhaoYYLate-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentationsMetab Brain Dis201833382983529374341
  • HauserNSManoliIGrafJCSloanJVendittiCPVariable dietary management of methylmalonic acidemia: metabolic and energetic correlationsAm J Clin Nutr2011931475621048060
  • MartinelliDDeodatoFDionisi-ViciCCobalamin C defect: natural history, pathophysiology, and treatmentJ Inherit Metab Dis201134112713520632110
  • MatosIVCastejónEMeavillaSClinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiencyMol Genet Metab2013109436036523746552
  • FroeseDSZhangJHealySGravelRAMechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuriaMol Genet Metab200998433834319700356
  • FroeseDSHealySMcDonaldMThermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorderMol Genet Metab20101001293620219402