A case of methylmalonic acidemia and homocysteinemia cblX type with negative tandem mass spectrometry testing.

ABSTRACT

A child with methylmalonic acidemia and homocysteinemia cblX type presented focal seizures and epileptic spasms in early infancy, but the tandem mass spectrometry tests showed negative results during neonatal screening or acute attack. Despite treated with a variety of antiepileptic drugs, the child died at age of The blood spot sample of the patient was retrospectively tested with ultrahigh performance liquid chromatography-tandem mass spectrometry, and the increased levels of methylmalonic acid and homocysteine were revealed. Whole exome sequencing showed that the proband had a c.202C>G(p.Q68E) hemizygous mutation in gene, which was inherited from his mother.