Targeted versus untargeted omics - the CAFSA story.

Background: In 2009, untargeted metabolomics led to the delineation of a new clinico-biological entity called cerebellar ataxia with elevated cerebrospinal free sialic acid, or CAFSA. In order to elucidate CAFSA, we applied sequentially targeted and untargeted omic approaches.

Methods And Results: First, we studied five of the six CAFSA patients initially described.

Economic feasibility of the sugar beet-to-ethylene value chain.

As part of a long-term strategy toward renewable feedstock, a feasibility study into options for the production of bioethylene by integrating the sugar beet-to-ethanol-to-ethylene value chain. Seven business cases were studied and tested for actual economic feasibility of alternative sugar-to-ethanol-to-ethylene routes in comparison to fossil-fuel alternatives. An elaborate model was developed to assess the relevant operational and financial aspects of each business case.

PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to anticonvulsant drugs and pyridoxine. Sequencing of the PNPO gene revealed a novel homozygous c.

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Tyrosine hydroxylase (TH) deficiency (OMIM 191290) is one cause of early-onset dopa-responsive dystonia. We describe seven cases from five unrelated families with dopa-responsive dystonia and low homovanillic acid in cerebrospinal fluid who were suspected to suffer from TH deficiency. Analysis of part of the TH promotor showed five homozygous and two heterozygous mutations in the highly conserved cyclic adenosine monophosphate response element.