5 and 6 The objective of this study
was to assess the clinical and laboratory profile of a sample of Brazilian patients with GSDI recruited from an outpatient referral center for inborn errors of metabolism. The main research hypothesis was that diagnosis of GSDI is delayed in Brazil, both due to a lack of access to diagnostic methods and due to poor awareness of the condition by healthcare providers, thus hindering early access to specific treatment and genetic counseling. This study was approved by the Ethics Committee of Hospital de Clínicas de Porto Alegre (HCPA, IPI 145 Brazil). All subjects signed an informed consent prior to study participation. This was an outpatient-based case series with cross-sectional analysis of the variables of interest. A convenience sampling strategy was used. The study was conducted between March of 2011 DZNeP mouse and January of 2013. The criterion for inclusion was a diagnosis of GSDI established using at least two of the following methods (the diagnosis was independently confirmed by the authors in all patients): a) clinical diagnosis, defined by over 12 months of specialist care (led by hepatologist or medical geneticist) and clinical manifestations consistent with GSDI (hypoglycemia with hyperlactatemia, hypertriglyceridemia, hyperuricemia,
hepatomegaly, and/or growth failure and short stature, and normal levels of creatine phosphokinase [CPK]) at the time of diagnosis or at the time of study inclusion; b) positive family history consistent with autosomal recessive inheritance, as Inositol oxygenase long as GSDI had been confirmed by enzymatic
methods or DNA analysis in the affected relative(s); c) histopathological diagnosis, defined as the presence of histological changes in liver tissue consistent with GSD, such as hyperglycogenated nuclei, mild fibrosis, and fatty changes with lipid vacuoles;7 d) enzymatic diagnosis, defined by negligible activity (< 10%) of G6Pase in fresh or frozen liver tissue samples; or e) molecular diagnosis, defined by the presence of pathogenic mutations in the G6PC gene (for patients with GSDIa) or in the SLC37A 3 gene (for those with GSDIb) as detected by molecular methods. The distinction between GSDIa and GSDIb was mostly based on clinical findings (absence or presence of neutropenia, respectively), as molecular diagnostics were unavailable to the majority of patients. Patients were invited to take part in the study after routine visits. Those who agreed to participate were all assessed by the same researcher and underwent a targeted history, physical examination, and anthropometric assessment.