Patent ID: 7485435

Claim:
A method for detecting a biotinidase deficiency and one or more disorders selected from: an aminoacidopathy, a fatty acid oxidation disorder and an organic acid disorder, in an individual, comprising: (a) contacting a sample comprising: (i) biotinidase and (ii) one or more amino acids or carnitines, with biocytin and one or more protease inhibitors to produce a reaction admixture, under conditions wherein said biotinidase is capable of acting on said biocytin, to generate at least one product, the product selected from biotin and lysine; (b) contacting said reaction admixture with a reagent that inhibits the ability of said biotinidase to act on biocytin, wherein said one or more amino acids or carnitines and said at least one product are soluble in said reagent; to produce a test sample and (c) determining the amount of said one or more amino acids or carnitines and determining the amount of said at least one product contained in said test sample using mass spectrometry, wherein a determined amount of said one or more amino acids or carnitines correlates with presence or absence of said aminoacidopathy, fatty acid oxidation disorder or organic acid disorder and a determined amount of said at least one product correlates with presence or absence of said biotinidase deficiency.