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 .271 dupA , 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
Validation

Diseases presenting "common mutations" symptom

alexander disease

alpha-thalassemia

congenital adrenal hyperplasia

dentinogenesis imperfecta

familial mediterranean fever

gm1 gangliosidosis

homocystinuria without methylmalonic aciduria

krabbe disease

lamellar ichthyosis

phenylketonuria

primary hyperoxaluria type 1

x-linked adrenoleukodystrophy

zellweger syndrome

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