Cataract and early nystagmus due to galactokinase deficiency

J Inherit Metab Dis. 2017 Sep;40(5):749-750. doi: 10.1007/s10545-017-0040-8. Epub 2017 Apr 20.

Authors

Vladimir Bzduch¹, Dana Tomcikova², Anton Gerinec², Darina Behulova³

Affiliations

¹ Department of Pediatrics, Comenius University Children's Hospital, Limbova 1, 833 40, Bratislava, Slovakia. bzduch@gmail.com.
² Department of Pediatric Ophtalmology, Comenius University Children's Hospital, Bratislava, Slovakia.
³ Department of Laboratory Medicine, Comenius University Children's Hospital, Bratislava, Slovakia.

PMID: 28429145
DOI: 10.1007/s10545-017-0040-8

No abstract available

Keywords: Biochemical Analysis; Cataract; Galactose; Significant Complication; Visual Outcome.

Publication types

Case Reports

MeSH terms

Cataract / complications
Cataract / congenital*
Cataract / etiology
Diagnostic Techniques, Ophthalmological
Galactose / deficiency*
Galactosemias / complications*
Galactosemias / etiology*
Humans
Infant
Male
Mutation
Nystagmus, Pathologic / complications*
Nystagmus, Pathologic / etiology*

Substances

Galactose

Supplementary concepts

Zonular cataract and nystagmus