Glycogen Storage Disease type I (GSD I) presents a complex diagnostic challenge due to its variable clinical presentations affecting primarily the liver and kidney. This rare genetic disorder stems from deficiencies in the glucose 6-phosphatase enzyme (GSD Ia) or glucose 6-phosphate microsomal transporter (GSD Ib), leading to abnormal glycogen and fat storage in the liver, kidney, and intestinal mucosa. Early and accurate Type Diagnosis is paramount to managing the wide spectrum of clinical manifestations in GSD I patients, which include hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and growth retardation. Infants with GSD type Ia often exhibit hypoglycemia-related symptoms when feeding intervals extend to 3-4 hours, while disease progression and severity vary widely with age of onset. Notably, GSD type Ib is further complicated by neutropenia, neutrophil dysfunction, and inflammatory bowel disease. This guideline serves as an educational tool for healthcare providers, aiming to streamline prompt, accurate type diagnosis and ensure optimal patient management strategies are implemented.
This management guideline is the result of a consensus reached by a national panel of GSD I experts, who meticulously reviewed scientific literature and contributed their specialized insights to define best practices in type diagnosis, treatment, and comprehensive management. The guideline specifically addresses diagnostic evaluation across multiple organ systems critically impacted by GSD I, including hepatic, renal, gastrointestinal/nutritional, hematologic, cardiovascular, and reproductive systems. It provides a framework for differential diagnosis, outlining conditions that should be considered based on presenting symptoms, and offers clear diagnostic algorithms to aid in efficient and accurate type diagnosis. Furthermore, it elaborates on crucial aspects of diagnostic evaluation, nutritional and medical management protocols, the importance of coordinated care, genetic counseling services, considerations for hepatic and renal transplantation, and the availability of prenatal diagnosis options.
In conclusion, this carefully developed guideline is designed to facilitate accurate and timely type diagnosis and improve the overall management of patients with GSD I. By aiding healthcare providers in recognizing all forms of GSD I and expediting the diagnosis process, this resource aims to minimize adverse outcomes associated with delayed type diagnosis and suboptimal management approaches. Moreover, this guideline identifies existing gaps in current scientific understanding, paving the way for future research initiatives to further enhance our knowledge and treatment strategies for GSD I.
