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Galactokinase deficiency
rareGalactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.
- Identifiers
- MONDO:0009255 OMIM:230200Orphanet:79237
- Causal genes
- GALK1
- Also known as
- galactokinase deficiency galactosemia · galactokinase deficiency with cataracts · galactosemia type 2 · GALK deficiency · GALK-D
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