Premium
Disordered intestinal function in glycogen storage disease
Author(s) -
Milla P. J.,
Atherton D. A.,
Leonard J. V.,
Wolff O. H.,
Lake B. D.
Publication year - 1978
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805585
Subject(s) - glycogen storage disease , glycogen , glycogen storage disease type i , glycogen storage disease type ii , medicine , endocrinology , small intestine , gastroenterology , renal function , biology , disease , physiology , pediatrics , enzyme replacement therapy
The classical features of Type I glycogen storage disease (McKusick 23220) (GSD) are hepatomegaly, hypoglycaemia, and acidosis, enlargement of the kidneys and short stature. Glucose‐6‐phosphatase (EC 3.1.3.9) activity is defective not only in liver and kidney but also in small intestine (Field et al. , 1965). In addition to the classical features, many patients suffer from episodes of diarrhoea (Fine et al. , 1969). At the Hospital for Sick Children, Great Ormond Street, patients with the commoner forms of hepatic glycogen storage disease have episodes of diarrhoea or loose stools more commonly than was suspected. We have investigated small intestinal function in three patients with Type I GSD by both in vitro and in vivo techniques.