Article
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.
Metabolism: clinical and experimental - 1 Oct 1999
Palmieri M, Mazur A, Berry G T, Ning C, Wehrli S, Yager C, Reynolds R, Singh R, Muralidharan K, Langley S, Elsas L, Segal S
Abstract excerpt
Urinary excretion of galactitol was determined in 95 normals (N/N), 67 galactosemic (G/G), and 39 compound heterozygotes for the Duarte and galactosemia genotype (D/G). Galactitol excretion is age-dependent in both normal individuals and patients with classic galactosemia on lactose-restricted diets. In galactosemic patients who are homozygous for the Q188R mutation, urinary galactitol levels were fivefold to...
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