Galactose 1-phosphate uridyltransferase deficiency

Levels of galactose-1-phosphate are elevated to above 100 mg/100 ml RBC in untreated galactose-1-phosphate uridyltransferase deficiency (classical galactosemia) and, to a lesser degree, in UDP galactose-4-epimerase deficiency. 

Berry GT, Palmieri M, Gross KC, Acosta PB, Hestenburg JA, Mazur A, Reynolds R, Segal S. The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. J Inherit Metab Dis 1993 16 91-100. 

Berry GT, Moate PJ, Reynolds RA, Yager CT, Ning C, Boston RY, Segal S. The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol Genet Metab 2004 81 22-30. 

Palmieri M, et al. Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. Metabolism. 1999 48(10) 1294-302. 

Galactose 1-phosphate uridyltransferase deficiency (Gal-l-PUT deficiency) is a rare autosomal recessive disorder that results in galac-tosaemia and galactosuria. It is usually manifest shortly after birth when the baby has feeding difficulties, with vomiting and failure to thrive. If not treated, liver damage, mental retardation and formation of cataracts can result. 

Beutler, E., Baluda, M.C., Sturgeon, P., Day, R. A new genetic abnormality resulting in galactose-1-phosphate uridyltransferase deficiency. Lancet 19651, 353-354... 

Table 15.2. Galactose-1-phosphate uridyltransferase deficiency (classical galactosemia) ...

Ning C, Reynolds R, Chen 1, Yager C, Berry GT, McNamara PD, Leslie N, Segal S. Galactose metabolism by the mouse with galactose-l-phosphate uridyltransferase deficiency. Pediatr Res 2000 48 211-217. 

Deficiency of galactose 1-phosphate uridyltransferase produces a more severe disease because, in addition to galactosemia, galactose 1-P accumulates in the liver, brain, and other tissues. The two enzyme deficiencies are compared in Table 1-12-3. 

Galactokinase Deficiency Galactose 1-Phosphate Uridyltransferase Deflcieucy... 

Classic galactosemia is a rare, autosomal recessive disorder caused by deficiency of galactose 1-phosphate uridyltransferase. 

Elevated in deficiencies of galactokinase, galactose-1-phosphate uridyltransferase (classical galactosemia), UDP galactose-4-epimerase, and Fanconi-Bickel-syn drome, portocaval shunt, and cirrhosis, depending on time after lactose consumption. 

Galactose-1-phosphate uridyltransferase is the enzyme deficient in classical galacto-saemia (MIM 230 400). This disorder is caused by an impairment in the pathway step from galactose-1-phosphate to UDP-galactose. 

Shin YS, Zschocke J, Das AM, Podskarbi T (1999) Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase. J Inherit Metab Dis 22 327-329. 

One form of galactosaemia is due to a deficiency of galac-tokinase but the most common form is due to a deficiency of galactose-1-phosphate uridyltransferase (hexose-l-phosphate uridylyltransferase). The condition presents in infancy with symptoms that include vomiting, diarrhoea, failure to thrive, mental retardation, renal tubular damage and hepatomegaly leading to jaundice. 

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