[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report].
BACKGROUND
Increased plasma galactitol levels may lead to development of bilateral pediatric cataract.


METHODS
A 3-year-old boy was found to suffer from a bilateral zonular cataract. Extracapsular lensectomy with posterior capsulotomy, transpupillar anterior vitrectomy and posterior chamber lens implantation were performed during a 4-month-interval.


RESULTS
The epimerase-activity in red cells of the index patient was found to be significantly decreased (11.2 mumol/h/g Hb; normal range; 19-35). From other family members, such as the brother (16.8), the father (16.0) and the grandfather (15.6), a diminished red cell activity was observed. The mother whose epimerase activity was considerably lower than that of the above mentioned family members (13.3) showed also a zonular bilateral cataract.


CONCLUSIONS
Investigation of enzymes and polyols of galactose metabolism as well as consultation of the concerned families are recommended for clarification of cataract development.
Viestenz
A
A
Augenklinik mit Poliklinik der Universität Erlangen-Nürnberg, Schwabachanlage 6, 91054 Erlangen. Arne.Viestenz@t-online.de
Gusek-Schneider
G C
GC
Jünemann
A G
AG
Shin
Y S
YS
Naumann
G O
GO
D002386:Cataract / Q000201:enzymology / Q000209:etiology*; D002675:Child, Preschool; D005690:Galactose / Q000378:metabolism*; D005693:Galactosemias / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D014534:UDPglucose 4-Epimerase / Q000172:deficiency / Q000378:metabolism
D014534:UDPglucose 4-Epimerase; D005690:Galactose