Glycogen Storage Disease Ib

Alternative Names

  • GSD1B
  • GSD Ib
  • Glcose-6-Phosphate Transport Defect
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

232220

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q23.3

Description

Glycogen storage disease (GSD) type IB is an inherited disorder that is associated with the accumulation of glycogen in the body's cells. This accumulation in different parts of the body impairs their ability to function normally. Patients present with neutropenia, inflammatory bowel disease, oral problems, hepatomegaly, hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. Additional features include short stature, thin arms and legs and xanthomas. Affected females have polycystic ovaries. Adenomas may form in the liver of adult patients. Diagnosis is made by measuring the levels of glucose, lactate, triglycerides and uric acids. Moreover, glucose challenge and liver function tests are used. Management includes avoiding hypoglycemia by continuous carbohydrate intake.

Mutations in the SLC37A4 gene cause GSD1B. These mutations prevent the proper breakdown of glucose 6-phosphate, which then gets converted into glycogen and fats. The accumulations of these molecules within the cells damage the liver and kidneys of affected individuals.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Affected patients were evaluated based on clinical manifestations or family history of similar illness and/or unexplained neonatal deaths. Almost all patients were born to consanguineous parents. GSD was found in 17/248 patients. The diagnosis was confirmed in all cases of GSD by measuring enzymatic activity in leukocytes, cultured fibroblasts or liver biopsy. Among GSD cases in this cohort, a single case was found to have GSD IB.  The estimated incidence of GSD IB in this cohort was 1 in 100,000 live births. The authors concluded that data obtained from this study underestimate the true figures of various IEM in the region. Therefore, there is an urgent need for centralized newborn screening program that utilizes tandem mass spectrometry, and offers genetic counseling for these families.

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