Heterogenous Glycogen Storage Disease in One Family: Deficiency of Glucose-6-Phosphatase in Two Siblings Associated with Deficiency of Acid Maltase in One and Debranching Enzyme in the Other

Three brothers, aged 17, 14 and 4 years, with weakness, growth retardation, infantilism, obesity, hepatomegaly and osteoporosis are presented. Deficiency of glucose-6-phosphatase was associated with deficiency of acid maltase in one and debranching enzyme in the other. Enzyme analyses could not be p...

Full description

Saved in:
Bibliographic Details
Published in:Human heredity 1976-01, Vol.26 (3), p.217-225
Main Authors: Domaniç, Nergiz, Akman, Nuran, Özand, Pinar, Müftüoglu, Asuman Ü
Format: Article
Language:English
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Three brothers, aged 17, 14 and 4 years, with weakness, growth retardation, infantilism, obesity, hepatomegaly and osteoporosis are presented. Deficiency of glucose-6-phosphatase was associated with deficiency of acid maltase in one and debranching enzyme in the other. Enzyme analyses could not be performed in the youngest sibling.
ISSN:0001-5652
1423-0062