Clinical aspects of glycogen storage disease: a case report
DOI:
https://doi.org/10.18041/2390-0512/biociencias.2.9663Keywords:
Hepatomegaly, Hypoglycemia, Glycogen storage diseaseAbstract
Glycogen storage diseases comprise inherited pathologies caused by enzyme and transporter abnormalities in glycogen synthesis and degradation. Clinical data include fasting lactic acidosis, hypoglycemia and hepatomegaly which can help guide the diagnosis. Diagnosis is suspected based on clinical presentation. In the past, definitive diagnosis required a liver biopsy to demonstrate glycogen deposition. However, mutational analysis of genes is now performed as a non-invasive approach. We present the case of a 19-month-old female patient, multiconsultant to the emergency department for episodes initially considered as focal crises (hypertonia of upper and lower limbs, sucking, fixed gaze) associated with hepatomegaly. She was evaluated by several specialties, with multiple managements without improvement. Finally, a diagnosis of glycogen storage disease was made by liver biopsy.
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El-Hattab AW, Sutton VR. Approach to Inborn Errors of Metabolism in Pediatrics. Pediatr Clin North Am [Internet]. 2018;65(2):xix–xx. Disponible en: https://doi.org/10.1016/j.pcl.2018.01.001
Contreras Roura J. Errores innatos del metabolismo de las purinas y otras enfermedades relacionadas. Rev Cuba Pediatría. 2014;84(2):197–200.
Hendriksz CJ, Gissen P. Glycogen storage disease. Paediatr Child Heal (United Kingdom) [Internet]. 2015;25(3):139–44. Disponible en: http://dx.doi.org/10.1016/j.paed.2014.10.007
Guilder L, Pula S, Pierre G. Metabolic disorders presenting as liver disease. Paediatr Child Heal (United Kingdom) [Internet]. 2017;27(12):533–9. Disponible en: https://doi.org/10.1016/j.paed.2017.07.007
Pierre G, Chronopoulou E. Metabolic disorders presenting as liver disease. Paediatr Child Heal (United Kingdom) [Internet]. 2013;23(12):509–15. Disponible en: http://dx.doi.org/10.1016/j.paed.2013.05.016
Chalès G, Guggenbuhl P. Glucogenosis, hiperoxalurias, aminoacidopatías e hiperlipidemias: manifestaciones osteoarticulares. EMC - Apar Locomot. 2017;50(3):1–10.
Smit GPA, Rake JP, Akman HO, Dimauro S. The glycogen storage diseases and related disorders. Inborn Metab Dis Diagnosis Treat. 2006;101–19.
Vega AI, Medrano C, Navarrete R, Desviat LR, Merinero B, Rodríguez-Pombo P, et al. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. Genet Med. 2016;18(10):1037–43.
SS, Ellingwood CA. Aspectos bioquímicos y clínicos de las enfermedades por almacenamiento de glucógeno. Dep Biochem Mol Genet Univ Louisv Sch Med. 2017;176(5):139–48.
Chávez S, Alántara J, Sierra M. Errores innatos del metabolismo, una mirada a un tópico poco valorado. Rev Hosp Jua Mex [Internet]. 2018;85(3):159–67. Disponible en: www.medigraphic.org.mxwww.medigraphic.com/hospitaljuarez
Labrador E, Weinstein DA. Glycogen Storage Disease Type VI Synonyms: GSD VI. 1993;1–14.
Rake J, Visser G, Labrune P, Leonard J, Ullrich K, Smit P. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002;161(0):S20–34.
Rodríguez Auad JP, Villalobos R, Luna B, Tamayo L. Glucogénesis: caracterización clínica - patológica del primer caso descrito en Bolivia en un paciente pediátrico. Rev Médica La Paz. 2015;21(2):40–5.
Alvear CC, Barboza M, Rodríguez ZK. Glycogen storage disease: Report of two cases in the city of Cartagena. Colomb Med. 2010;41(1):76–81.
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