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# Von Gierke disease (glycogen storage disease type I)

In von Gierke disease the liver cannot release glucose: there is severe hypoglycaemia between meals and a very large liver.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [Liver](https://durgical.com/en/anatomy/liver/)
- [Kidneys](https://durgical.com/en/anatomy/kidney/)
- [Pancreas](https://durgical.com/en/anatomy/pancreas/)
- [Spleen](https://durgical.com/en/anatomy/spleen/)

## In biochemistry

- [Gluconeogenesis: Step 10 · Glucose-6-phosphatase](https://durgical.com/en/biochemistry/pathways/gluconeogenesis/#paso-10)
- [Glycogen metabolism: Step 8 · Glucose-6-phosphatase (liver and kidney only)](https://durgical.com/en/biochemistry/pathways/glycogen-metabolism/#paso-8)
- [Glucose-6-phosphatase](https://durgical.com/en/biochemistry/enzymes/glucose-6-phosphatase/)
- [Glycogen](https://durgical.com/en/biochemistry/molecules/glycogen/)
- [Ribose 5-phosphate](https://durgical.com/en/biochemistry/molecules/ribose-5-phosphate/)
- [Cori cycle](https://durgical.com/en/biochemistry/topics/cori-cycle/)
- [Fed, fasting and starvation states](https://durgical.com/en/biochemistry/topics/fed-fasting-and-starvation-states/)

## Why it happens

- [Intracellular accumulations: cholesterol, proteins, hyaline, glycogen](https://durgical.com/en/general-pathology/intracellular-accumulations-cholesterol-proteins-hyaline-glycogen/)

## What it is

Inherited glycogen storage disease caused by lack of glucose-6-phosphatase (type Ia, G6PC1 gene) or its transporter (type Ib, SLC37A4 gene). The last step of glycogenolysis and gluconeogenesis fails.

## Who gets it

About 1 in 100,000 people; type Ia makes up 80 % of cases. It has been described across Latin America; there are no Colombian figures of its own.

## Causes

- Autosomal recessive inheritance: variants of G6PC1 (Ia) or SLC37A4 (Ib)

## Risk factors

- Carrier parents or affected siblings
- Consanguinity

## Pathophysiology

Without glucose-6-phosphatase, the liver cannot turn glucose 6-phosphate into free glucose, either from glycogen or from gluconeogenesis: hypoglycaemia appears after 3–4 hours of fasting. Trapped glucose 6-phosphate is diverted into glycolysis (lactate), fat synthesis (high triglycerides, fatty liver) and the pentose pathway (more purines and uric acid); lactate also competes with urate in the kidney. Glycogen and fat enlarge liver and kidneys. In type Ib neutrophils also fail.

## Classification

- Type Ia: enzyme deficiency (G6PC1)
- Type Ib: transporter deficiency (SLC37A4), with neutropenia and infections

## Symptoms and signs

- Hypoglycaemia with seizures or tremor at 3–6 months of age, when the baby sleeps longer between feeds
- Large [abdomen](https://durgical.com/en/anatomy/region/abdomen/) from hepatomegaly
- Round «doll-like» face and short stature
- Fast breathing from lactic acidosis
- Easy nosebleeds (platelet dysfunction)
- Infections and mouth ulcers in type Ib

## Red flags

- Seizure or drowsiness in an infant with a large liver
- Rapid, deep breathing (acidosis)
- Fever in type Ib (neutropenia)

## Diagnosis

**Clinical**
Infant with short-fast hypoglycaemia, hepatomegaly, doll-like face and poor growth.

**Tests**
Low glucose with high lactate, uric acid, triglycerides and cholesterol; glucose does not rise with glucagon. Blood count with neutropenia in type Ib. Genetic testing of G6PC1 and SLC37A4 (avoids [liver](https://durgical.com/en/anatomy/liver/) biopsy).

**Imaging**
Abdominal ultrasound: large liver and [kidneys](https://durgical.com/en/anatomy/kidney/); follow-up of hepatic adenomas with ultrasound or MRI.

## Treatment

**Lifestyle**
Frequent daytime meals and a continuous glucose supply at night (tube feeding or uncooked cornstarch), as set by the metabolic team

**Lifestyle**
Limit fructose, sucrose and galactose, which cannot be turned into glucose

**Medical**
Treatment of hyperuricaemia and hyperlipidaemia; in type Ib, treatment of neutropenia

**Acute**
Urgent intravenous glucose in severe hypoglycaemia or acidosis

**Surgical**
Liver transplant for adenomas turning malignant or disease that does not respond

**Follow-up**
Regular monitoring of growth, kidney function, lipids and hepatic adenomas

## Complications

- Hepatic adenomas with risk of hepatocellular carcinoma
- Chronic kidney disease and stones
- Gout
- Osteoporosis
- Inflammatory bowel disease in type Ib

## Prognosis

With good glucose control most reach adulthood; outlook depends on avoiding hypoglycaemia and watching liver and kidneys.

## Test yourself

Think of the answer, then tap the question to see it.

## Which enzyme is missing in GSD Ia?

Glucose-6-phosphatase (G6PC1) of liver and kidney.

## Why is there lactic acidosis in von Gierke disease?

Trapped glucose 6-phosphate flows down glycolysis to lactate, and gluconeogenesis cannot use that lactate.

## Which feature distinguishes type Ib from Ia?

Neutropenia with infections, because neutrophils need the SLC37A4 transporter.

## What happens to blood glucose after glucagon in this disease?

It does not rise, because glycogen is broken down but glucose 6-phosphate cannot leave as glucose.

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## Related conditions

- [Lactic acidosis](https://durgical.com/en/conditions/lactic-acidosis/)
- [Gout](https://durgical.com/en/conditions/gout/)
- [Hers disease (glycogen storage disease type VI)](https://durgical.com/en/conditions/hers-disease/)
- [Cori disease (glycogen storage disease type III)](https://durgical.com/en/conditions/cori-disease/)
- [Hepatocellular carcinoma](https://durgical.com/en/conditions/hepatocellular-carcinoma/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Glycogen storage disease type I: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-i/) (MedlinePlus, US National Library of Medicine, 2026); [G6PC1 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/g6pc1/) (MedlinePlus, US National Library of Medicine, 2026); [SLC37A4 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/slc37a4/) (MedlinePlus, US National Library of Medicine, 2026); Textbook of Biochemistry for Medical Students, 6th ed. (Jaypee Brothers Medical Publishers (Vasudevan DM, Sreekumari S, Vaidyanathan K), 2011).

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Source: https://durgical.com/en/conditions/von-gierke-disease/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/von-gierke-disease/