GLYCOGEN STORAGE DISEASE TYPE Ib: Case Report

• Main Author: Rangel de Almeida, Angélica Araújo
• Publication Date: 2010
• Other Authors: Campos Fernandes, Regina Célia de Souza
• Format: Article
• Language: por
• Source: Revista Científica da Faculdade de Medicina de Campos
• Download full: https://www.fmc.br/ojs/index.php/RCFMC/article/view/117
• topic: Doença de Von Gierke; Doença do Armazenamento de Glicogênio tipo Ib; glicogenose Ib; Von Gierke Disease; Glycogen Storage Disease Type Ib; glycogenosis Ib

Introduction: Glycogen Storage Disease is an autosomal recessive genetic disease, being the incidence of type I with one per 100,000 live births. The initial signs and symptoms usually appear within 28 days of life. The glycogenosis type Ib is associated with liver, kidney and intestine damage. Treatment is primarily nutritional.Objective: To report a case of glycogen storage disease type Ib, emphasizing his clinic, and the importance of early diagnosis for better patient management.Method: Revision of medical records.Case Report: A 3-month-old infant with a history of sister affected by glycogenosis Ib presenting hepatomegaly and remaining physical examination without modification with excepting of growth retardation. Laboratorial examination showed hypoglycemia, hypertriglyceridemia, hyperlactatemia and metabolic acidosis.Conclusion: It is necessary to have high clinical suspicion and that laboratory tests are performed early for confirmation and management, when a case of glycogenosis is suspected. The definitive diagnosis may be done with liver biopsy and genetic study. The treatment is based on nutritional therapy.