METHODS AND KITS FOR THE DIAGNOSIS OF GALACTOSEMIA

摘要

Provided are methods for the detection and diagnosis of galactosemia. The methods are based on the discovery that abnormal levels of selected analytes in sample fluid, typically blood samples, of patients who are at risk are supportive of a diagnosis of galactosemia. At least two new biomarkers for galactosemia are thus disclosed, Eotaxin and MCP-I. Altogether the concentrations these markers, individually, or in combinations with any of Alpha-2 Macro globulin, Apolipoprotein H, Cancer Antigen 125, Leptin, TNF RII, Alpha-Fetoprotein, IgM, MIP-I alpha, Ferritin, and IgE provide a sensitive and selective picture of the patient's condition, namely, whether the patient is suffering from galactosemia. Kits containing reagents to assist in the analysis of fluid samples are also described.