OntologiesncitclassesNCIT:C114767   
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Galactokinase Deficiency
http://purl.obolibrary.org/obo/NCIT_C114767

An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life.

Exact Synonyms
Galactokinase Deficiency
Galactosemia Type 2
GALK Deficiency
class Information
code

C114767

Contributing_Source

Cellosaurus

Preferred_Name

Galactokinase Deficiency

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0268155

class Relations