Tags

Type your tag names separated by a space and hit enter

[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report].
Klin Monbl Augenheilkd. 2001 Feb; 218(2):121-4.KM

Abstract

BACKGROUND

Increased plasma galactitol levels may lead to development of bilateral pediatric cataract.

PATIENT

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.

Authors+Show Affiliations

Augenklinik mit Poliklinik der Universität Erlangen-Nürnberg, Schwabachanlage 6, 91054 Erlangen. Arne.Viestenz@t-online.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

11258124

Citation

Viestenz, A, et al. "[Early Childhood Cataract in Hereditary UDP-galactose-4-epimerase Deficiency--a Case Report]." Klinische Monatsblatter Fur Augenheilkunde, vol. 218, no. 2, 2001, pp. 121-4.
Viestenz A, Gusek-Schneider GC, Jünemann AG, et al. [Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report]. Klin Monbl Augenheilkd. 2001;218(2):121-4.
Viestenz, A., Gusek-Schneider, G. C., Jünemann, A. G., Shin, Y. S., & Naumann, G. O. (2001). [Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report]. Klinische Monatsblatter Fur Augenheilkunde, 218(2), 121-4.
Viestenz A, et al. [Early Childhood Cataract in Hereditary UDP-galactose-4-epimerase Deficiency--a Case Report]. Klin Monbl Augenheilkd. 2001;218(2):121-4. PubMed PMID: 11258124.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report]. AU - Viestenz,A, AU - Gusek-Schneider,G C, AU - Jünemann,A G, AU - Shin,Y S, AU - Naumann,G O, PY - 2001/3/22/pubmed PY - 2001/5/5/medline PY - 2001/3/22/entrez SP - 121 EP - 4 JF - Klinische Monatsblatter fur Augenheilkunde JO - Klin Monbl Augenheilkd VL - 218 IS - 2 N2 - BACKGROUND: Increased plasma galactitol levels may lead to development of bilateral pediatric cataract. PATIENT: 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. SN - 0023-2165 UR - https://www.unboundmedicine.com/medline/citation/11258124/[Early_childhood_cataract_in_hereditary_UDP_galactose_4_epimerase_deficiency__a_case_report]_ L2 - https://www.thieme-connect.com/DOI/DOI?10.1055/s-2001-12256 DB - PRIME DP - Unbound Medicine ER -