National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Glycogen storage disease type 1B

Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. Signs and symptoms of the condition generally develop at age 3 to 4 months and may include hypoglycemia, seizures, lactic acidosis, hyperuricemia (high levels of a waste product called uric acid in the body), and hyperlipidemia. Affected people may also have short stature; thin arms and legs; a protruding abdomen; neutropenia (which may lead to frequent infections); inflammatory bowel disease and oral health problems. GSD1B is caused by changes (mutations) in the SLC37A4 gene and is inherited in an autosomal recessive manner.[1][2] Although there is currently no cure for the condition, symptoms can often be managed with a special diet in combination with certain medications.[2][3]
Last updated: 11/8/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Decreased glomerular filtration rate 0012213
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Doll-like facies
Doll-like facial appearance
0000295
Elevated hepatic transaminase
High liver enzymes
0002910
Enlarged kidney
Large kidneys
0000105
Focal segmental glomerulosclerosis 0000097
Gout 0001997
Hepatocellular carcinoma 0001402
Hepatomegaly
Enlarged liver
0002240
Hyperlipidemia
Elevated lipids in blood
0003077
Hypertension 0000822
Hyperuricemia
High blood uric acid level
0002149
Hypoglycemia
Low blood sugar
0001943
Lactic acidosis
Increased lactate in body
0003128
Lipemia retinalis 0000660
Nephrolithiasis
Kidney stones
0000787
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
Oral ulcer
Mouth ulcer
0000155
Osteoporosis 0000939
Pancreatitis
Pancreatic inflammation
0001733
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Protuberant abdomen
Belly sticks out
Extended belly
[ more ] 		0001538
Recurrent bacterial infections
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] 		0002718
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Xanthelasma
Fatty deposits in skin around the eyes
Fatty deposits on eyelids
[ more ] 		0001114
Xanthomatosis
Yellow bumps of fatty deposits on skin
0000991
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Glycogen storage disease type 1B. This website is maintained by the National Library of Medicine.
  • The American Liver Foundation provides information about glycogen storage disease type 1. Click on the link to view this information.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Glycogen storage disease type 1B. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Glycogen storage disease type I. Genetics Home Reference. July 2015; http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i.
  2. Deeksha S Bali, PhD, Yuan-Tsong Chen, MD, PhD, and Jennifer L Goldstein, PhD, MS, CGC. Glycogen Storage Disease Type I. GeneReviews. September 2013; http://www.ncbi.nlm.nih.gov/books/NBK1312/#gsd1.Management.
  3. Wayne E Anderson, DO, FAHS, FAAN. Type Ib Glycogen Storage Disease. Medscape Reference. April 2014; http://emedicine.medscape.com/article/119412-overview.