ORPHA:79259
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Also called G6P deficiency type Ib, G6P translocase deficiency, G6PT deficiency, GSD due to G6P deficiency type 1b, GSD due to G6P deficiency type Ib, GSD due to G6PT deficiency, GSD type 1 non a, GSD type 1b, GSD type Ib, GSDIb, Glycogen storage disease due to G6P deficiency type Ib, Glycogen storage disease type 1b, Glycogen storage disease type Ib, Glycogenosis due to glucose-6-phosphatase deficiency type 1b, Glycogenosis due to glucose-6-phosphatase transport defect type Ib, Glycogenosis type 1b, Glycogenosis type Ib
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:79259 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Growth delay
- Protuberant abdomen
- Hypoglycemia
- Hyperuricemia
- Hypertriglyceridemia
- Hepatomegaly