Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Lerner‐Ellis, Jordan; Tirone, Jamie C.; Pawelek, Peter D.; Doré, Carole; Atkinson, Janet L; Watkins, David; Morel, Chantal F.; Fujiwara, Takuya; Moras, Emily; Hosack, Angela; Dunbar, Gail V; Antonická, Hana; Forgetta, Vincenzo; Dobson, C M; Leclerc, Daniel; Gravel, Roy A.; Shoubridge, Eric A.; Coulton, James W.; Lepage, Pierre; Rommens, Johanna M.; Morgan, Kenneth; Rosenblatt, David S.

doi:10.1038/ng0806-957a

Cited by 4 publications

(3 citation statements)

References 6 publications

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“…It results from mutations in the MMACHC gene, which codes for a cytosolic enzyme responsible for the decyanation and the dealkylation of cyanocobalamin and alkylcobalamins, respectively. Most cblC patients present with hematologic and neurological pathologies and some of them with optic atrophy or pigmentary retinopathy [4,5]. Patients with cblG defect (MIM# 250940) carry mutations in the MTR gene, which encodes MS.…”

Section: Introductionmentioning

confidence: 99%

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders

et al. 2019

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Section: Introductionmentioning

confidence: 99%

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders

et al. 2019

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“…This showed the presence of a compound heterozygosis for p. Tyr130His and p.Tyr222Stop in the MMACHC gene (Methylmalonic Aciduria type C and Homocystinuria) (OMIM * 609831). Both of these mutations have been described by Lerner-Ellis [6].…”

Section: Case Presentationmentioning

confidence: 96%

“…In 2006 Lerner-Ellis and coll. first mapped the cblC locus and identified mutations in the MethylMalonic Aciduria (Cobalamin deficiency) cblC type, with Homocystinuria (MMACHC gene, OMIM*609831) [6].…”

Section: Introductionmentioning

confidence: 99%

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria

Martinelli¹,

Villani

Vecchione

et al. 2019

BMC Pregnancy Childbirth

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Background Cobalamin metabolism disorders are rare, inherited diseases which cause megaloblastic anaemia and other clinical manifestations. Early diagnosis of these conditions is essential, in order to allow appropriate treatment as early as possible. Case presentation Here we report the case of a patient who was apparently healthy until the age of 20, when she presented with impaired renal function and normocytic anaemia. At the age of 34, when her first pregnancy resulted in an intrauterine death of a morphologically normal growth-restricted foetus, she was diagnosed with homocystinuria and methylmalonic aciduria due to cyanocobalamin C (cblC) defect, which was confirmed by molecular investigation. Consequently, hydroxocobalamin was administered to correct homocysteine plasma levels. This treatment was efficacious in lowering homocysteine plasma levels and restored anaemia and renal function. During a second pregnancy, the patient was also administered a prophylactic dose of low molecular -weight heparin. The pregnancy concluded with a full-term delivery of a healthy male. Conclusions This case emphasises the importance of awareness and appropriate management of rare metabolic diseases during pregnancy. We suggest that women with late-onset cblC defect can have a positive pregnancy outcome if this metabolic disease is treated adequately.

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Disorders of Cobalamin and Folate Transport and Metabolism

Rosenblatt¹,

Fowler²

2006

Inborn Metabolic Diseases

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Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Cited by 4 publications

References 6 publications

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria

Disorders of Cobalamin and Folate Transport and Metabolism

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