18 Furthermore, many patients with GSDI exhibit abnormal pubertal

18 Furthermore, many patients with GSDI exhibit abnormal pubertal growth,5 and sex steroids play a major role in bone formation, particularly during puberty.22 Some issues must

be taken into account when analyzing bone mineral density in children and adolescents, such as bone maturation, sex, and stage of puberty.23 Overall, the patients assessed in this case series had good bone mineral density despite their GSDI. Despite the rarity of GSDI, it must not be overlooked by pediatricians. The agent used for treatment of this inborn error of metabolism check details is readily available at any grocery store or supermarket. Administration of cornstarch as a nutraceutical (food used for medicinal purposes) to GSDI patients leads to excessive weight gain as a side effect, due to the attendant increase in total carbohydrate intake and probably due to relative physical inactivity as well. No studies have assessed the efficacy of physical exercise in patients with GSDI, and it is not contraindicated. Therefore, physical activity – supported by a well-designed dietary prescription that takes the pre- and post-exercise periods into account – may be an effective strategy for the control of weight gain in patients learn more whose metabolic control is otherwise satisfactory. Greater awareness of this disorder among pediatricians should aid their search for an etiological diagnosis

in cases of hypoglycemia, hepatomegaly, dyslipidemia, and short stature that might

otherwise be improperly managed. Early diagnosis based on clinical and laboratory findings is feasible, easy, and affordable even where access to specialty Casein kinase 1 care is limited. Nevertheless, investment in centers for expert molecular diagnosis is both warranted and necessary, as the use of molecular methods practically obviates the need for liver biopsy. Early treatment can be instituted at any health service, does not require any complex interventions, and decreases the risk of death, mainly by preventing severe hypoglycemia. Adequately treated patients can lead intellectually and socially satisfying lives with no limitations other than a special diet. FIPE-HCPA, FAPERGS and CNPq. The authors declare no conflicts of interest. This work was supported by FIPE-HCPA, FAPERGS and CNPq. The authors would like to thank the multidisciplinary team at the Inborn Errors of Metabolism Clinics of the HCPA Medical Genetics Service, the HCPA and PUC Gastroenterology and Hepatology Services, the SIEM, and Ana Carolina Monteiro for helping with the manuscript and with the diagnosis and assistance of the patients. The authors would also like to thank Dr. Terry Derks for the invaluable learning opportunities provided, and Dr. David Weinstein for his many teachings that contributed directly or indirectly to this study, which may yet become the driving force for a multicenter research group.

Leave a Reply

Your email address will not be published. Required fields are marked *


You may use these HTML tags and attributes: <a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <strike> <strong>