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Inborn errors of metabolism

Glycogen storage disease type Ia

An inherited disease. The liver cannot release the sugar it stores into the blood. It is managed with frequent feeding and cornstarch.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: English, French). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Inborn errors of metabolism” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The liver cannot release the sugar it stores (glycogen) into the blood. Because of this, blood sugar drops during fasting. Glycogen and fat build up in the liver and kidneys. Over time, this build-up damages these organs.

Which symptoms can occur?

Symptoms often begin at 3-4 months of age. Fasting causes blood sugar to drop.

  • Low blood sugar during fasting (common); sometimes it leads to seizures
  • Large liver and a swollen-looking belly (common)
  • Delayed growth and short stature (common)
  • Round face and thin arms and legs
  • Frequent nosebleeds
  • Later in life, delayed puberty, thinning of the bones and gout
  • Later in life, kidney problems and liver tumors, which are mostly benign

How is it diagnosed?

The diagnosis is considered based on symptoms and blood tests. Blood sugar and lactic acid are measured when fasting and after eating. Uric acid and blood fats may also be high. The diagnosis is confirmed with a genetic test.

Treatment and care

The main aim is to prevent blood sugar from dropping. For this, frequent meals, night-time feeding and diet adjustments are used. In severe cases, a liver or kidney transplant may be considered. With appropriate care, life expectancy can be close to normal. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through recessive inheritance. The mother and father are often healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Genetic counselling is recommended for brothers and sisters and for future pregnancies.

Source: MedlinePlus Genetics — Glycogen storage disease type I · Orphanet — Glycogen storage disease due to glucose-6-phosphatase deficiency

Key facts

How common is it?
Birth prevalence: 1-9 per 100 000 (Europe)
How is it inherited?
Autosomal recessive
When does it usually start?
Newborn period, Infancy
Gene(s) involved
G6PC1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Special diets and medical nutrition · Metabolic diet, blood monitoring, medical formula and SGK report, sick-day plan, tube feeding and swallowing problems, school meals, supplement warning

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about GSD Ia

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 2 active interventional studies for this disease. 2 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Inborn errors of metabolism: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:79258

No separate ICD-11 code; WHO classifies this disease under: 5C51.3 (Glycogen storage disease)

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.