Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina

Abstract

Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal and liver complications. Data of 36 patients,29 GSD Ia and 7 Ib from a high complexity Hospital in Argentina was collected retrospectively. Collected data included diagnosis, anthropometric, biochemical parameters, therapy and follow-up. Treatment increased Height SDS (p=0.012). Patients with good adherence to therapy presented better growth parameters (p=0.049). Instead, admissions were detrimental (p =0.031) and were more common in Ib patients (p=0.002). The early appearance of complications (liver adenomas and nephropathy) was related to sustained triglyceride values > 500mg / dl (p=0.009 and 0.046 respectively). With intensive dietary treatment, clinical and biochemical status improves but cannot be completely corrected in most patients. Growth improves with treatment and this is optimized with adequate adherence. We must take into account that with ageing, more complications will develop.

Glycogen storage disease type 1a in the Ohio Amish

“…However, this may also be reflective of better acceptance and compliance of treatment in our cohort with improved access to local care. Only 1 patient (7%) had short stature which is less than other recently reported cohorts with an incidence between 20% and 40% 33,36,37 . The normal height in the majority of patients likely reflects the good metabolic control, which has previously been shown to improve growth 36 .…”

“…Diagnostic delay was common in our cohort with a median delay of 8 months for clinically diagnosed patients from symptom onset to diagnosis, similar to previous cohorts. 33 Families with an affected sibling opted to have subsequent siblings tested by cord blood analysis. Cord blood testing resulted in 33% of our cohort receiving a molecular diagnosis prior to symptoms by 2 weeks of age.…”

“…The adenoma in the one affected patient had shown regression with good metabolic control similar to previous reports. 33 , 43 …”

“… 16 A patient was considered adherent to treatment if he/she had no missed appointments, hospitalizations, or episodes of symptomatic hypoglycemia (irritability, tremulousness, and seizures) in the past 12 months. 33 …”

“…16 A patient was considered adherent to treatment if he/she had no missed appointments, hospitalizations, or episodes of symptomatic hypoglycemia (irritability, tremulousness, and seizures) in the past 12 months. 33 Complications were assessed by organ system. Gastrointestinal complications included short stature (height Zscore <2), oral aversion, vitamin D deficiency (< 30 ng/ mL), and presence of hepatic adenomas.…”