Orphanet: Glycogen storage disease due to glycogen debranching enzyme deficiency

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Glycogen storage disease due to glycogen debranching enzyme deficiency

ORPHA:366

Classification level: Disorder

Synonym(s):
- Amylo-1,6-glucosidase deficiency
- Cori disease
- Cori-Forbes disease
- Forbes disease
- GDE deficiency
- GSD due to glycogen debranching enzyme deficiency
- GSD type 3
- GSDIII
- Glycogen storage disease type 3
- Glycogen storage disease type III
- Glycogenosis due to glycogen debranching enzyme deficiency
- Glycogenosis type 3
- Glycogenosis type III
- Limit dextrinosis
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: Infancy, Childhood
ICD-10: E74.0
ICD-11: 5C51.3
OMIM: 232400
UMLS: C0017922
MeSH: D006010
GARD: 9442
MedDRA: 10053250

Summary

Epidemiology

Estimated prevalence is approximately 1/100,000 births (it may be higher among North Africans).

Clinical description

GSD 3 commonly occurs in early childhood. Children present with hepatomegaly, growth retardation and occasional seizures related to hypoglycemia. Hepatomegaly may disappear with adulthood. Muscle weakness is slowly progressive. Other frequently associated signs include muscular hypotonia and hypertrophic cardiomyopathy. Symptoms often improve at puberty, except in the few cases where cirrhosis or myopathy appears. Biological findings include hypoglycemia without acidosis, hypertriglyceridemia, and hypertransaminasemia during childhood.

Etiology

The disease is caused by mutations in the AGL gene (1p21), leading to a deficiency in the GDE that works with the glycogen phosphorylase to catabolize glycogen. The deficiency may occur in the liver and muscle (GSD 3a) or only in the liver (GSD 3b).

Diagnostic methods

The diagnosis is based on the evidence of enzymatic deficiency in fresh leukocytes, fibroblasts, or on a liver or a muscle biopsy. Unlike GSD type 1 (see this term), there is a response to glucagon after meals.

Differential diagnosis

Differential diagnoses include the other forms of glycogen storage diseases (see these terms).

Antenatal diagnosis

Prenatal diagnosis is possible by enzyme assay and/or DNA analysis.

Genetic counseling

Transmission is autosomal recessive.

Management and treatment

Treatment is based on a specific diet, with enteral nasogastric drip feeding at night in case of hypoglycemia, frequent meals, and uncooked starch supplements. For patients with myopathy, a high protein diet is also recommended.

Prognosis

Rarely, patients may develop complications such as hepatic failure or hepatocellular carcinoma.

Expert reviewer(s): Dr Roseline FROISSART - Last update: September 2009

A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009) Greek (2009, pdf)

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)