Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis.
de Almeida
I T
IT
Centro de Metabolismos e Genética (INIC), Faculdade de Farmácia, Lisboa, Portugal.
Duran
M
M
Silva
M F
MF
Portela
R
R
Cabral
A
A
Tasso
T
T
Eusébio
F
F
Silveira
C
C
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000209:etiology / Q000652:urine*; D008297:Male; D008764:Methylmalonic Acid / Q000652:urine*; D011422:Propionates / Q000652:urine*
D011422:Propionates; D008764:Methylmalonic Acid