Abstract: A process for detecting mutations in the gene responsible for glactosemia, galatose-1-phosphate uridyl transferase (GALT), is described. In one embodiment, the process can be used to detect over 85% of the mutations known to cause galactosemia in the United States population by using six different oligonucleotide probes, which span single-nucleotide Missense or nonsense mutations in the GALT gene. Hybridization conditions which can distinguish a single nucleotide mismatch are used to detect both the presence and zygosity of mutations in the GALT gene to aid in genetic counselling. A kit for use in detecting mutations in the GALT gene is also disclosed.

Abstract: A process for detecting mutations in the gene responsible for galactosemia, galactose-1-phosphate uridyl transferase (GALT), is described. In one embodiment, the process can be used to detect over 85% of the mutations known to cause galactosemia in the United States population by using six different oligonucleotide probes, which span single-nucleotide Missense or nonsense mutations in the GALT gene. Hybridization conditions which can distinguish a single nucleotide mismatch are used to detect both the presence and zygosity of mutations in the GALT gene to aid in genetic counseling. A kit for use in detecting mutations in the GALT gene is also disclosed.

Abstract: A non-invasive method for the functional assessment of an inherited metabolic disorder in infants and children including administering to the patient a predetermined substrate labeled with a stable non-radioactive isotope of carbon .sup.13 C, analyzing the breath samples for the isotopic abundance of .sup.13 CO.sub.2, and calculating the quantity of substrate oxidized for determining the rate of substrate oxidation.