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[A case of atypical galactosemia(author's transl)].
Humangenetik. 1975; 27(4):309-13.H

Abstract

The case of a male infant suffering from clinical manifest galactosemia in connexion with a disease of only about 70% in uridyltransferase activity is characterized as atypical galactosemia. As compared with the described "Indiana variant" of a galactosemic female infant showing an unstable uridyltransferase activity this case demonstrates an unchanged enzyme activity still after 72 hrs. The metabolic disease of this patient clearly demonstrated that the lack of a typical pronounced reduction of enzyme activity maybe not the leading criterion for excluding the clinical diagnosis of galactosemia. In the present case only the consistent galactose-free diet lead to the decisive improvement of the clinical picture. The investigation of the family revealed the typical pattern of an autosomal recessive mode of heredity.

Authors

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Pub Type(s)

English Abstract
Journal Article

Language

ger

PubMed ID

1150250

Citation

Matz, D, et al. "[A Case of Atypical Galactosemia(author's Transl)]." Humangenetik, vol. 27, no. 4, 1975, pp. 309-13.
Matz D, Enzenauer J, Menne F. [A case of atypical galactosemia(author's transl)]. Humangenetik. 1975;27(4):309-13.
Matz, D., Enzenauer, J., & Menne, F. (1975). [A case of atypical galactosemia(author's transl)]. Humangenetik, 27(4), 309-13.
Matz D, Enzenauer J, Menne F. [A Case of Atypical Galactosemia(author's Transl)]. Humangenetik. 1975;27(4):309-13. PubMed PMID: 1150250.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case of atypical galactosemia(author's transl)]. AU - Matz,D, AU - Enzenauer,J, AU - Menne,F, PY - 1975/1/1/pubmed PY - 1975/1/1/medline PY - 1975/1/1/entrez SP - 309 EP - 13 JF - Humangenetik JO - Humangenetik VL - 27 IS - 4 N2 - The case of a male infant suffering from clinical manifest galactosemia in connexion with a disease of only about 70% in uridyltransferase activity is characterized as atypical galactosemia. As compared with the described "Indiana variant" of a galactosemic female infant showing an unstable uridyltransferase activity this case demonstrates an unchanged enzyme activity still after 72 hrs. The metabolic disease of this patient clearly demonstrated that the lack of a typical pronounced reduction of enzyme activity maybe not the leading criterion for excluding the clinical diagnosis of galactosemia. In the present case only the consistent galactose-free diet lead to the decisive improvement of the clinical picture. The investigation of the family revealed the typical pattern of an autosomal recessive mode of heredity. SN - 0018-7348 UR - https://www.unboundmedicine.com/medline/citation/1150250/[A_case_of_atypical_galactosemia_author's_transl_]_ L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -