The invention relates to in vivo systems and high throughput screening platform for drugs applicable in inborn error of metabolism (IEM) disorders. More specifically, the invention provides yeast screening system of candidate therapeutic compounds applicable in IEM disorders associated with accumulation of at least one metabolite. The systems of the invention comprise yeast cell/s that carry at least one manipulation in at least one yeast metabolic pathway, that leads to accumulation of said metabolite.

The present invention relates to a process for the non-destructive determination of gender, developmental stage and/or viability of an avian embryo in an egg, comprising (a) detecting at least a first developmental marker compound selected from sugars and/or amino acids, precursors and metabolites thereof in an egg at a time period of from the beginning of the incubation of the egg until the hatching; (b) measuring the amount of the at least first detected developmental marker compound, and (c) comparing the amount to a base line established for male and female, developmental stage of the embryo, and/or alive and deceased or non-developed embryo, to determine whether the embryo is viable, male and/or female, and/or the developmental stage of the embryo.

Disclosed herein are compositions, systems, and methods for diagnosing and treatment of subjects suffering from anxiety, autism spectrum disorder (ASD), or a pathological condition with one or more of the symptoms of ASD.

Methods and devices for testing and monitoring L-phenylalanine in biological samples are provided.

Methods of using isotopic biomarkers in determining the efficacy of a treatment for an organic acidemia in a subject are disclosed herein. Methods of using isotopic biomarkers in determining the efficacy of a liver-directed treatment for an organic acidemia in a subject are likewise disclosed herein.

The present invention is directed to a method of quantifying intracellular metabolite effluxes in permeabilized cancer cells for selecting cancer patients responsive for a cancer treatment, the method comprising the steps of: a) providing a sample of cancer cells taken from a patient; b) permeabilizing said cancer cells; c) incubating said permeabilized cancer cells in a reaction medium for a period of time allowing biological activity of intracellular organelles and accumulation of metabolites produced by said activity into the reaction medium in the presence of a substrate or substrates relating to a metabolite efflux or effluxes of interest, wherein said substrates used are at least glutamine and pyruvate; d) determining the quantity of metabolites relating to said metabolite efflux or effluxes of interest accumulated in the reaction medium during step c); and e) comparing the amounts of metabolites determined in step d) to equal measurements performed on control samples of the same tissue type and assessing the aggressiveness of the cancer cells or the treatment response of the cancer cells to a drug affecting a metabolic pathway or pathways relating to said metabolite efflux or effluxes of interest.

Methods to assess a pediatric subject having a single ventricle heart include identifying a difference between concentration levels of metabolic biomarkers and reference concentration levels and then assessing the pediatric subject based on the identified differences.

Disclosed herein are compositions, systems, and methods for diagnosing and treatment of subjects suffering from anxiety, autism spectrum disorder (ASD), or a pathological condition with one or more of the symptoms of ASD.

Disclosed herein are compositions, systems, and methods for diagnosing and treatment of subjects suffering from anxiety, autism spectrum disorder (ASD), or a pathological condition with one or more of the symptoms of ASD.

The present invention relates to a method for diagnosing pancreatic cancer in a subject comprising the steps of: (a) determining in at least one sample of said subject the amounts of a group of diagnostic biomarkers comprising (i) at least one diagnostic amino acid, said diagnostic amino acid being proline, histidine or tryptophan, preferably, being proline; (ii) at least one diagnostic ceramide, said diagnostic ceramide being ceramide (d18:1,C24:0) or ceramide (d18:2,C24:0), preferably being ceramide (d18:1,C24:0); (iii) at least one diagnostic sphingomyelin, said diagnostic sphingomyelin being sphingomyelin (35:1), sphingomyelin (d17:1,C16:0), sphingomyelin (41:2) or sphingomyelin (d18:2,C17:0), preferably being sphingomyelin (35:1); and (iv) CA19-9; and (b) comparing said amounts of the diagnostic biomarkers with a reference, whereby pancreatic cancer is diagnosed. Moreover, the present invention relates to a method for determining the probability for a subject to suffer from pancreatic cancer, and to devices and uses related to said methods.