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Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis
Author(s) -
Tavares de Almeida I.,
Duran M.,
Silva M. F. B.,
Portela R.,
Cabral A.,
Tasso T.,
Eusébio F.,
Silveira C.
Publication year - 1991
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 - 10.1007/bf01800600
Subject(s) - ketosis , methylmalonic aciduria , medicine , hyperglycinemia , methylmalonic acid , ketoacidosis , methylmalonic acidemia , pediatrics , endocrinology , chemistry , biochemistry , vitamin b12 , amino acid , diabetes mellitus , glycine , type 1 diabetes
Summary A patient with methylmalonic acidaemia was initially misdiagnosed on the basis of an organic acid profile as having propionic acidaemia during a period of ketosis
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