Update on glycogen storage disease: primary hepatic involvement

Tiffany L.Freeney Wright, Luis A. Umaña, Charina M. Ramirez

Research output: Contribution to journalReview articlepeer-review


Purpose of reviewGlycogen storage disease is a group of disorders primarily characterized by hepatomegaly and fasting hypoglycemia. This group of disorders may also affect the muscle, kidneys, and neurodevelopment. With an overall prevalence of 1 : 20 000, GSDs are disorders that clinicians should diagnose in a timely manner because adequate management can prevent complications, such as neurodevelopmental delay and liver disease [1]. As there are numerous types of GSDs, being able to distinguish one type from another can be overwhelming. In this review, we focus on hepatic GSDs to provide a concise review of clinical presentation, diagnosis, and current management.Recent findingsGSDs are considered rare disorders, and one of the main challenges is the delay in diagnosis, misdiagnosis, or under diagnosis. However, with molecular genetic testing now readily available, confirming the diagnosis is no longer as difficult or invasive as it was in the past.SummaryCurrent therapy for this group of disorders requires maintaining stable glucose levels. Avoiding hypoglycemia, as well as hyperglycemia, is critical in managing these patients. Being able to distinguish the types of GSDs and understanding the specific treatments for each enzymatic defect will optimize patient care.

Original languageEnglish (US)
Pages (from-to)496-502
Number of pages7
JournalCurrent opinion in pediatrics
Issue number5
StatePublished - Oct 1 2022


  • glycogen storage disease
  • hepatomegaly
  • ketotic hypoglycemia
  • poor growth
  • short stature

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'Update on glycogen storage disease: primary hepatic involvement'. Together they form a unique fingerprint.

Cite this