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Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study

Sophy Korula1, Sumita Danda2, Praveen G Paul1

  • 1Paediatric Endocrinology and Metabolism Unit, Christian Medical College and Hospital, Vellore, India.

Journal of Clinical and Experimental Hepatology
|May 15, 2020
PubMed

Insights

Glycogen storage disease (GSD) diagnosis can be delayed without early morning seizures. Uncooked corn starch is the primary treatment, improving metabolic parameters but not mixed hyperlipidemia.

Area of Science:

  • Metabolic disorders
  • Pediatric endocrinology
  • Genetic diseases

Background:

  • Glycogen storage disease (GSD) often presents with early morning seizures, but absence of this symptom can delay diagnosis, particularly for non-GSD type 1.
  • Limited data exist on patient outcomes for GSD, especially for less common types.

Purpose of the Study:

  • To investigate the common clinical presentations and types of Glycogen Storage Disease (GSD).
  • To evaluate the clinical and biochemical outcomes of GSD patients.
  • To review the genetic mutations associated with GSD.

Main Methods:

  • An observational study was conducted from May 2016 to April 2019 in a metabolic clinic.
  • Data were collected and analyzed for 20 pediatric patients diagnosed with GSD, excluding those with Fanconi-Bickel syndrome or less than 4 months of follow-up.

Main Results:

  • The study analyzed 20 GSD patients (16 males) with a mean age of 4.3 years at presentation. Common symptoms included hepatomegaly (100%) and short stature (90%), with 40% experiencing early morning seizures.
  • Treatment with uncooked corn starch led to significant improvements in fasting glucose (50.4 to 79.5 mg/dl) and SGPT (416 to 199 U/L). Triglycerides decreased, while cholesterol showed a minimal increase. Weight and height percentiles improved.
  • Genetic testing identified GSD types VI, III, IXa, IXc, and Ia. Liver biopsy confirmed GSD in 15 patients. Uncooked corn starch was the primary management, with omega-3 fatty acids and high-protein diets used adjunctively in some cases.

Conclusions:

  • Increased awareness of GSD among pediatricians and hepatologists is crucial, as asymptomatic hepatomegaly and short stature are common presenting signs.
  • Dietary therapy with uncooked corn starch is the cornerstone of GSD management, effectively improving metabolic parameters.
  • Mixed hyperlipidemia remains challenging to control despite metabolic improvements, and further research into the role of omega-3 fatty acids is warranted. Genetic mutation analysis should guide tailored treatment strategies.
Abstract

Keywords:
GSD, Glycogen storage diseaseUCCS, Uncooked corn starchdietfollow-upgenetic profileglycogen storage diseaseomega-3 fatty acid

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