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Entry Name Description Category Pathway Gene
H00070 Galactosemia 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. ... Inherited metabolic disease hsa00052 Galactose metabolism
hsa00520 Amino sugar and nucleotide sugar metabolism
(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]
H02009 Galactokinase deficiency
Galactosemia II
Galactokinase deficiency is an autosomal recessive disorder, caused by mutations in the GALK1 gene. The main symptom of this disease is early onset cataracts. Galactose accumulation in the lens of the ... Inherited metabolic disease hsa00052 Galactose metabolism GALK1 [HSA:2584] [KO:K00849]
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