[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.
Augenklinik mit Poliklinik der Universität Erlangen-Nürnberg, Schwabachanlage 6, 91054 Erlangen. Arne.Viestenz@t-online.de
A
A
Viestenz
G C
GC
Gusek-Schneider
A G
AG
Jünemann
Y S
YS
Shin
G O
GO
Naumann
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