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Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.
BMC Pregnancy Childbirth 2019; 19(1):318BP

Abstract

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.

Authors+Show Affiliations

Fondazione IRCCS 'Casa Sollievo della Sofferenza', Unità di Aterosclerosi e Trombosi, 71013, San Giovanni Rotondo (Foggia), Foggia, Italy. e.grandone@operapadrepio.it. Ob/Gyn Department, The First I.M. Sechenov Moscow State Medical University, Moscow, Russia. e.grandone@operapadrepio.it.Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, Naples, Italy.Fondazione IRCCS 'Casa Sollievo della Sofferenza', Unità di Aterosclerosi e Trombosi, 71013, San Giovanni Rotondo (Foggia), Foggia, Italy.Fondazione IRCCS 'Casa Sollievo della Sofferenza', Unità di Aterosclerosi e Trombosi, 71013, San Giovanni Rotondo (Foggia), Foggia, Italy.Fondazione IRCCS 'Casa Sollievo della Sofferenza', Unità di Aterosclerosi e Trombosi, 71013, San Giovanni Rotondo (Foggia), Foggia, Italy.Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Foggia, Foggia, Italy.Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Foggia, Foggia, Italy.Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Foggia, Foggia, Italy.Dipartimento di Medicina Clinica e Sperimentale, Università degli Studi di Foggia, Foggia, Italy.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31470807

Citation

Grandone, Elvira, et al. "Prospective Evaluation of Pregnancy Outcome in an Italian Woman With Late-onset Combined Homocystinuria and Methylmalonic Aciduria." BMC Pregnancy and Childbirth, vol. 19, no. 1, 2019, p. 318.
Grandone E, Martinelli P, Villani M, et al. Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria. BMC Pregnancy Childbirth. 2019;19(1):318.
Grandone, E., Martinelli, P., Villani, M., Vecchione, G., Fischetti, L., Leccese, A., ... Margaglione, M. (2019). Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria. BMC Pregnancy and Childbirth, 19(1), p. 318. doi:10.1186/s12884-019-2474-5.
Grandone E, et al. Prospective Evaluation of Pregnancy Outcome in an Italian Woman With Late-onset Combined Homocystinuria and Methylmalonic Aciduria. BMC Pregnancy Childbirth. 2019 Aug 30;19(1):318. PubMed PMID: 31470807.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria. AU - Grandone,Elvira, AU - Martinelli,Pasquale, AU - Villani,Michela, AU - Vecchione,Gennaro, AU - Fischetti,Lucia, AU - Leccese,Angelica, AU - Santacroce,Rosa, AU - Corso,Gaetano, AU - Margaglione,Maurizio, Y1 - 2019/08/30/ PY - 2018/05/27/received PY - 2019/08/25/accepted PY - 2019/9/1/entrez PY - 2019/9/1/pubmed PY - 2019/9/1/medline KW - Homocysteine KW - Metabolic disorders KW - Pregnancy SP - 318 EP - 318 JF - BMC pregnancy and childbirth JO - BMC Pregnancy Childbirth VL - 19 IS - 1 N2 - 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. SN - 1471-2393 UR - https://www.unboundmedicine.com/medline/citation/31470807/Prospective_evaluation_of_pregnancy_outcome_in_an_Italian_woman_with_late-onset_combined_homocystinuria_and_methylmalonic_aciduria L2 - https://bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-019-2474-5 DB - PRIME DP - Unbound Medicine ER -