Galactokinase deficiency

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Synonyms: GALK deficiency | GALK-D | Galactokinase deficiency galactosemia | Galactosemia type 2

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Galactokinase deficiency?

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Clinical Trials

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