Galactokinase deficiency

Orpha code: 79237OMIM code: 230200

Definition

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.

Disease data
Classification

Disease

Synonyms
GALK deficiency
Galaktozemia typu 2
Galaktozemia z niedoboru galaktokinazy
GALK-D
Niedobór GALK
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2
ORPHA code
79237
OMIM code
230200
ICD10 code
E74.2
ICD11 code
5C51.41

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl