Glycogen storage disease

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Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

ORPHA:79258Clinical subtype

Also called G6P deficiency type 1a · GSD due to G6P deficiency type 1a · GSD due to G6P deficiency type Ia · GSD type 1a · GSDIa · Glycogen storage disease due to G6P deficiency type Ia · Glycogen storage disease type 1a · Glycogenosis due to glucose-6-phosphatase deficiency type 1a · Glycogenosis due to glucose-6-phosphatase deficiency type Ia · Glycogenosis type Ia

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Prevalence
1-9 / 100 000 (at birth, Europe)
Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Clinical subtype

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

G6PC1Disease-causing germline mutation(s)

ICD-10 codes

E74.0filed under a broader ICD-10 category — shared with 36 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 7864MONDO 0009287OMIM 232200UMLS C2919796

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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