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Successful pregnancy in a woman with mut − methylmalonic acidaemia
Author(s) -
Deodato F.,
Rizzo C.,
Boenzi S.,
Baiocco F.,
Sabetta G.,
DionisiVici C.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1015632911801
Subject(s) - pregnancy , methylmalonic acidemia , methylmalonic acid , medicine , pediatrics , vitamin b12 , gynecology , obstetrics , endocrinology , biology , genetics
We report on a favourable pregnancy in a woman affected by mut − methylmalonic acidaemia. Under vitamin B 12 and carnitine therapy she remained symptom‐free throughout pregnancy, labour, delivery and the postpartum period and gave birth to a term, healthy female newborn. At follow‐up, the child shows normal somatic and neurocognitive development.