Premium
Successful pregnancy in severe methylmalonic acidaemia
Author(s) -
Wasserstein M. P.,
Gaddipati S.,
Snyderman S. E.,
Eddleman K.,
Desnick R. J.,
Sansaricq C.
Publication year - 1999
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:1005597722237
Subject(s) - methylmalonic acid , methylmalonic acidemia , medicine , pregnancy , ketoacidosis , methylmalonic aciduria , pediatrics , inborn error of metabolism , vitamin b12 , endocrinology , diabetes mellitus , biology , type 1 diabetes , genetics
Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life‐threatening ketoacidosis. With improved and intensive treatment, these patients are living into adulthood, but many experience late‐onset disease complications such as chronic renal failure, chronic pancreatitis and osteopenia. We report the successful delivery of a healthy baby to a 20‐year‐old woman with vitamin B 12 ‐unresponsive methylmalonic acidaemia who has these late‐onset manifestations of the disease and had plasma methylmalonic acid concentrations of 1900μmol/L during the first trimester of pregnancy.