Tags

Type your tag names separated by a space and hit enter

[Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract].
Monatsschr Kinderheilkd. 1988 Dec; 136(12):828-30.MK

Abstract

The mother of a boy who suffered from classical galactosaemia (galactose-1-phosphate uridyl transferase deficiency) has unilateral cataracta. In addition the boy had a decreased activity of the UDP-galactose-4-epimerase. The latter defect could also be demonstrated in the erythrocytes from the mother and the grandmother. In contrast to the finding of cataracta in the mother the grandmother with the same type of double heterozygosity was ophthalmologically normal. The implication of partial maternal disorders of galactose metabolism will be discussed in view of their possible role for the origin of cataracta.

Authors+Show Affiliations

Klinik für Pädiatrie, Medizinischen Universität zu Lübeck.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

2853298

Citation

Heyne, K, et al. "[Double Heterozygosity (transferase-/epimerase-defect) and Galactosemia Cataract]." Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde, vol. 136, no. 12, 1988, pp. 828-30.
Heyne K, Shin YS, Schwinger E. [Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract]. Monatsschr Kinderheilkd. 1988;136(12):828-30.
Heyne, K., Shin, Y. S., & Schwinger, E. (1988). [Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract]. Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde, 136(12), 828-30.
Heyne K, Shin YS, Schwinger E. [Double Heterozygosity (transferase-/epimerase-defect) and Galactosemia Cataract]. Monatsschr Kinderheilkd. 1988;136(12):828-30. PubMed PMID: 2853298.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract]. AU - Heyne,K, AU - Shin,Y S, AU - Schwinger,E, PY - 1988/12/1/pubmed PY - 1988/12/1/medline PY - 1988/12/1/entrez SP - 828 EP - 30 JF - Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde JO - Monatsschr Kinderheilkd VL - 136 IS - 12 N2 - The mother of a boy who suffered from classical galactosaemia (galactose-1-phosphate uridyl transferase deficiency) has unilateral cataracta. In addition the boy had a decreased activity of the UDP-galactose-4-epimerase. The latter defect could also be demonstrated in the erythrocytes from the mother and the grandmother. In contrast to the finding of cataracta in the mother the grandmother with the same type of double heterozygosity was ophthalmologically normal. The implication of partial maternal disorders of galactose metabolism will be discussed in view of their possible role for the origin of cataracta. SN - 0026-9298 UR - https://www.unboundmedicine.com/medline/citation/2853298/[Double_heterozygosity__transferase_/epimerase_defect__and_galactosemia_cataract]_ L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -