Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases

  • Chenia Caldeira MartinezEmail author
  • Tássia Tonon
  • Tatiéle Nalin
  • Lilia Farret Refosco
  • Carolina Fischinger Moura de Souza
  • Ida Vanessa Doederlein Schwartz
Research Report
Part of the JIMD Reports book series (JIMD, volume 45)


Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism whose dietary treatment involves uncooked cornstarch administration and restriction of simple carbohydrate intake. The prevalence of feeding difficulties (FDs) and orofacial myofunctional disorders (OMDs) in these patients is unknown. Objective: To ascertain the prevalence of FDs and OMDs in GSD. Methods: This was a cross-sectional, prospective study of 36 patients (19 males; median age, 12.0 years; range, 8.0–18.7 years) with confirmed diagnoses of GSD (type Ia = 22; Ib = 8; III = 2; IXa = 3; IXc = 1). All patients were being treated by medical geneticists and dietitians. Evaluation included a questionnaire for evaluation of feeding behavior, the orofacial myofunctional evaluation (AMIOFE), olfactory and taste performance (Sniffin’ Sticks and Taste Strips tests), and facial anthropometry. Results: Nine (25%) patients had decreased olfactory perception, and four (11%) had decreased taste perception for all flavours. Eight patients (22.2%) had decreased perception for sour taste. Twenty-six patients (72.2%) had FD, and 18 (50%) had OMD. OMD was significantly associated with FD, tube feeding, selective intake, preference for fluid and semisolid foods, and mealtime stress (p < 0.05). Thirteen patients (36.1%) exhibited mouth or oronasal breathing, which was significantly associated with selective intake (p = 0.011) and not eating together with the rest of the family (p = 0.041). Lower swallowing and chewing scores were associated with FD and with specific issues related to eating behavior (p < 0.05). Conclusion: There is a high prevalence of FDs and OMDs in patients with GSD. Eating behavior, decreased taste and smell perception, and orofacial myofunctional issues are associated with GSD.


Feeding and eating disorders Feeding behavior Glycogen storage disease Metabolism, inborn errors Myofunctional therapy Stomatognathic system 



The authors thank the team of the Medical Genetics Service and the Research and Graduate Program of Hospital de Clínicas de Porto Alegre (HCPA) for the collaboration in this study. We also thank the patients and families of patients with hepatic glycogen storage disease who kindly agreed to participate in this study. CAPES, CNPQ, FAPERGS, and FIPE (HCPA) also supported the work.

Supplementary material

477698_1_En_131_MOESM1_ESM.docx (14 kb)
Supplementary Material (DOCX 13 kb)


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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Chenia Caldeira Martinez
    • 1
    Email author
  • Tássia Tonon
    • 1
  • Tatiéle Nalin
    • 1
  • Lilia Farret Refosco
    • 2
  • Carolina Fischinger Moura de Souza
    • 2
  • Ida Vanessa Doederlein Schwartz
    • 1
    • 2
    • 3
  1. 1.Post-graduate Program in Medicine: Medical SciencesUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  2. 2.Medical Genetics Service, Hospital de Clínicas de Porto AlegrePorto AlegreBrazil
  3. 3.Department of GeneticsUniversidade Federal do Rio Grande do SulPorto AlegreBrazil

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