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A disorder of galactose metabolism characterized by a deficiency of uridylyl diphosphogalactose-4-epimerase activity resulting in benign asymptomatic form (deficiency in blood cells only) and severe forms with hepatic failure, Fanconi syndrome, and neurological impairment.

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Galactose Epimerase Deficiency; Gale Deficiency; Galactosemia III. UDP-Galactose-4-Epimerase Deficiency.

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Very rare medical condition presenting with great variability among populations. A severe form has been described in Japan with an incidence of 1:23,000 live births, whereas it is limited to few cases in England. Benign forms have been reported in African-Americans with a frequency of 1:6,200 live births and 1:64,800 in non-black Americans.

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Autosomal recessive.

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Uridylyl diphosphogalactose-4-epimerase assists in the conversion of galactose-1-phosphate to glucose1-phosphate by catalyzing the conversion of uridine diphosphate (UDP)-glucose to UDP-galactose. The disease is caused by mutation in the UDP-galactose-4-epimerase gene (GALE) located at 1p36-p35.

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Generally made by the discovery of elevated galactose sugars in newborn screening programs, but associated with a normal level of galactose-1-phosphate uridylyltransferase. Benign forms are associated with a galactose epimerase deficiency in red blood cells and leukocytes, whereas the epimerase activity in the liver, activated lymphocytes and cultured skin fibroblasts is normal.

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Identical to the classical form of galactosemia involving gastrointestinal (vomiting, feeding difficulties, failure to thrive, jaundice, hepatomegaly, hypoglycemia, ascites, splenomegaly, hepatic cirrhosis) and central nervous system (sensorineural deafness, lethargy, irritability, hypotonia, mental retardation, language, cognitive, and developmental delay). Fanconi syndrome (vomiting, dehydration, weakness, unexplained fever, anorexia, constipation, polydipsia, and polyuria). Cataract can also be present.

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Evaluate hepatic and renal functions (laboratory investigation, clinical and echography) and neurological function (clinical, EEG, CT scan).

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Few specific considerations; implications are related to renal and cardiac dysfunction.

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Perioperative fluid regimen and anesthetic drugs should be adapted in consideration for hepatic and renal functions. Aminoglycosides should be used carefully because of deafness and potential renal dysfunction. Consider interaction between antiepileptic treatment and anesthetic drugs.

Maceratesi P, Daude N, Dallapiccola B, et al: Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Mol Genet Metab 63:26, 1998.  [PubMed: 9538513]
Wohlers TM, Christacos NC, Harreman MT, et al: Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. Am J Hum Genet 64:462, 1999.  [PubMed: 9973283]

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