Diagnostic assay for classic inborn galactosemia
AssigneeOhio State Innovation Foundation
InventorsVenkat Gopalan, Eleanor Bashian, Pankajavalli Thirugnanasambantham
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Abstract
The present disclosure relates to a diagnostic assay to detect classic inborn galactosemia. The assay comprises detecting defective galactose metabolism using a substrate-specific recombinant phosphatase derived from Salmonella.
Claims25
Non-naturally occurring bacteria, wherein the bacteria have been engineered to express sugar-phosphate phosphatase in an amount greater than what the bacteria would naturally produce.
A kit for detection of galactose metabolic enzyme activity, wherein the kit comprises a bacterial-derived engineered sugar-phosphate phosphatase.
A method of treating a subject with galactosemia, by determining lack of a metabolic enzyme in the subject, the method comprising:
- a. obtaining a sample from the subject;
- b. exposing the sample to a substrate of the metabolic enzyme, wherein lack of, or reduced production of the metabolic enzyme is related to galactosemia, wherein they are exposed to each other under conditions which allow for the metabolic enzyme to act on the substrate, wherein a first product is not produced, or is produced at a lower rate, if the subject has galactosemia;
- c. after step b, exposing the sample to a bacterially-derived sugar-phosphate phosphatase, wherein upon exposure to the sugar-phosphate phosphatase, a second product is not produced or produced in lower amounts if the subject has galactosemia;
- d. determining absence or reduced amount of the second product, wherein lack of the second product indicates that the metabolic enzyme is absent or has reduced activity, thereby determining that the subject has galactosemia;
- and
- e. treating the subject with an activator of the metabolic enzyme or the metabolic enzyme itself.
The method of 15, wherein the metabolic enzyme is galactose-1-phosphate uridylyl transferase.
Dependencies are inferred from the claim text.