Table 3.

Recommended Evaluations at Initial Diagnosis in Individuals with Glycogen Storage Disease Type I

System/ConcernEvaluationComment
Hepatic
  • Serum/plasma concentration of glucose, lactic acid, uric acid, & lipids incl cholesterol & triglycerides, AST, ALT, bilirubin, albumin, PT/INR
  • Consultation w/metabolic specialist
  • Liver imaging to evaluate for hepatomegaly
  • Liver function tests
At diagnosis
Nutrition/Growth
  • Measurement of length/height, weight; calculation of BMI
  • Eval of nutritional status
Skeletal Measurement of bone densityBeginning at age 10 yrs or as clinically indicated
Serum 25-hydroxyvitamin DAt diagnosis
Cardiovascular Blood pressureAt diagnosis
  • Echocardiogram to detect pulmonary hypertension when indicated
  • Lipid panel incl triglycerides
Beginning at age 10 yrs or earlier if symptomatic
Renal Kidney function tests incl BUN, creatinine, urine microalbumin/creatinine ratio, urinary citrate excretionAt diagnosis
Kidney imaging to evaluate for nephromegaly & kidney stonesBeginning at age 10 yrs
Neurodevelopment
  • Developmental assessment
  • Assess for evidence of seizures.
At diagnosis
Hematologic
  • Eval for anemia
  • Platelet aggregation studies & functional assay to evaluate platelet function
  • Von Willebrand factor antigen & activity
At diagnosis in those w/bleeding tendency, poor metabolic control &/or undergoing surgical procedures
Immunologic Complete blood count w/manual differential to evaluate for neutropenia in persons w/: At diagnosis
Gastrointestinal
  • Assess for signs/symptoms of diarrhea, enterocolitis, &/or bowel ulcers.
  • Serum iron & ferritin
At diagnosis
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of GSD I to facilitate medical & personal decision making
Family support
& resources 		Assess need for: At diagnosis

ALT = alanine aminotransferase; AST = aspartate aminotransferase; BMI = body mass index; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Glycogen Storage Disease Type I

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