Dominant inheritance of sialuria, an inborn error of feedback inhibition.

"French type" sialuria, a presumably dominant disorder that, until now, had been documented in only five patients, manifests with mildly coarse facies, slight motor delay, and urinary excretion of large quantities (>1 g/d) of free N-acetylneuraminic acid (NeuAc). The basic defect consists of the very rare occurrence of failed feedback inhibition of a rate-limiting enzyme, in this case uridinediphosphate-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase, by a downstream product, in this case cytidine monophosphate (CMP)-NeuAc. We report a new patient with sialuria who has a heterozygous G-->A substitution in nucleotide 848 of the epimerase gene, which results in an R266Q change.

A suspected case of late-onset sodium-valproate-induced hepatic failure.

A 15-year-old boy was under anti-epileptic medication (diphenylhydantoine, phenobarbital and Na valproate) for more than five years. He was admitted in cerebral coma and died after 24 hours. The histological findings suggest a valproate induced liver toxicity.