Open AccessThe natural history of glycogen storage disease type Ib in England: A multisite survey
Author(s) -
Halligan Rebecca,
White Fiona J.,
Schwahn Bernd,
Stepien Karolina M.,
Kamarus Jaman Nazreen,
McSweeney Mel,
Kitchen Steve,
Gribben Joanna,
Dawson Charlotte,
Lewis Katherine,
Cregeen David,
Mundy Helen,
Santra Saikat
Publication year - 2021
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12200
Subject(s) - natural history , retrospective cohort study , medicine , cohort , glycogen storage disease , liver transplantation , disease , cohort study , genotype , new england , pediatrics , transplantation , biology , gene , genetics , politics , political science , law
Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across England. A total of 35 patients, with a median age of 9.1 years (range 1‐39 years), were included in the study. We examined the genotype and phenotype of all patients and reported 14 novel alleles. The phenotype of GSDIb in England involves a short fasting tolerance that extends into adulthood and a high prevalence of gastrointestinal symptoms. Growth is difficult to manage and neutropaenia and recurrent infections persist throughout life. Liver transplantation was performed in nine patients, which normalized fasting tolerance but did not correct neutropaenia. This is the first natural history study on the cohort of GSDIb patients in England.