| Entry |
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| Name |
Galactosemia
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| Description |
Galactosemia is an autosomal recessive disorder caused by a defect in one of the three enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts.
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| Category |
Inherited metabolic disease
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| Pathway |
| Galactose metabolism | | Amino sugar and nucleotide sugar metabolism |
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| Gene |
(Type 1) GALT; galactose-1P uridylyltransferase [HSA: 2592] [KO: K00965]
(Type 2) GALK1; galactokinase 1 [HSA: 2584] [KO: K00849]
(Type 3) GALE; UDP-galactose-4-epimerase [HSA: 2582] [KO: K01784]
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| Marker |
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| Comment |
Galactosemia is routinely detected by a newborn screening test.
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| Other DBs |
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| Reference |
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| Authors |
Fridovich-Keil JL |
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| Title |
Galactosemia: the good, the bad, and the unknown. |
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| Journal |
J Cell Physiol 209:701-5 (2006) |
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| Reference |
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| Authors |
Bosch AM |
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| Title |
Classical galactosaemia revisited. |
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| Journal |
J Inherit Metab Dis 29:516-25 (2006) |
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| Reference |
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| Authors |
Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ |
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| Title |
Molecular basis for Duarte and Los Angeles variant galactosemia. |
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| Journal |
Am J Hum Genet 60:366-72 (1997) |
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| Reference |
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| Authors |
Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ |
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| Title |
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. |
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| Journal |
Nat Genet 10:307-12 (1995) |
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| Reference |
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| Authors |
Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL |
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| Title |
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. |
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| Journal |
Am J Hum Genet 64:462-70 (1999) |
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