Дефіцит галактокінази
ORPHA:79237· ICD-10 E74.2· Galactokinase deficiency
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal