Rare Diseases Symptoms Automatic Extraction

Treatment of cobalamin C (cblC) deficiency during pregnancy.

[homocystinuria without methylmalonic aciduria]

To report the successful pregnancy of a woman with methylmalonic acidemia and hyperhomocysteinemia, cblC type [cobalamin C (cblC) deficiency] (MIM 277400).Retrospective chart review.A 24-year-old woman presented at 14 weeks gestation with nausea, self-restricted protein diet, and weight loss. She had a past history of asymptomatic methylmalonic acidemia but had been lost to follow-up since the age of 15 years. Biochemical evaluation revealed combined methylmalonic acidemia and hyperhomocysteinemia. Complementation analysis confirmed cblC deficiency. One copy of the most common mutations in the MMACHC gene, c.271dupA, was identified. The women was treated from 15 weeks of gestation with a low protein diet (64 g/day) (1.1 g /kg of weight/day), L-carnitine (1 g per os 3 times daily to 3 g per os 3 times daily in the third trimester), aspirin (salicylic acid) 80 mg per day, folic acid 5 mg per day, and hydroxocobalamin 1 mg intramuscular every week to two times per week in the third trimester. The pregnancy was uneventful and the delivery at term. The newborn was healthy at delivery and at follow-up.We report on the successful outcome of pregnancy in a treated woman with cblC disease. The pregnancy was uneventful for both fetus and mother with the delivery of a term healthy boy. There is a need for an international registry on the management and outcomes of pregnancy in women with inborn errors of metabolism.

Diseases presenting "combined methylmalonic acidemia and hyperhomocysteinemia. complementation analysis" symptom

  • homocystinuria without methylmalonic aciduria

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