Glycogen storage disease I

MONDO:0002413

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.

Also known as: G6P deficiency, GSD due to G6P deficiency, GSD type 1, GSD type I, GSD1, Glycogen Storage Disease Type I, glycogen storage disease I, glycogen storage disease due to G6P deficiency

13 clinical trials for this condition and its sub-types, 10 tagged with Glycogen storage disease I itself.

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Where it sits in the disease tree

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Part of

↑ Disorder of glycogen metabolism (69)

Sub-types of Glycogen storage disease I

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 7 trials
Glycogen storage disease type 1 due to SLC37A4 mutation 0 trials · 3 incl. sub-types
1 sub-type
- Glycogen storage disease Ib 3 trials
Glycogen storage disease Id 0 trials

Including sub-types (13) Tagged with Glycogen storage disease I (10)

Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 2 Completed 2

Can a diabetes drug tame dangerous blood sugar drops in a rare metabolic disorder?

Disease control Not yet recruiting

This study looks at whether diazoxide, a drug that reduces insulin release, can help children with type 1 glycogenosis maintain steadier blood sugar levels. Type 1 glycogenosis is a rare inherited condition where the body cannot properly release glucose from stored glycogen, lead…

Sponsor: Central Hospital, Nancy, France • Aim: Disease control

Last updated Aug 02, 2026 00:00 UTC

Glycogen storage disease I

Where it sits in the disease tree

Can a diabetes drug tame dangerous blood sugar drops in a rare metabolic disorder?