Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a homozygous mutation located in a potential branch point sequence, the first possible branch point mutation in PC.

[Breast milk as a cause of group B streptococcal sepsis].

Group B beta-haemolytic streptococci (GBS) are the most common cause of serious bacterial infection in the neonate. Neonatal GBS sepsis is divided into early onset (1st- 6th day) and late onset (LO) (after 6th day of life). The incidence of both is increased in premature infants and infants with a low birth weight.