Table 4.

Recommended Surveillance for Individuals with Glycogen Storage Disease Type III

System/ConcernEvaluationFrequency
Hepatic AST, ALT, liver function as needed (e.g., albumin, bilirubin, ammonia, & clotting studies), CK, lipid profileEvery 6-12 mos
Liver ultrasound & FibroScan® (if possible) to screen for adenomas & hepatic fibrosisEvery 6-12 mos in children; every 12-24 mos in adults
Liver MRI in those w/abnormal liver ultrasoundCT/MRI every 6-12 mos in older persons based on lab & clinical findings
Glucose
homeostasis
  • Measure blood glucose preprandially. 1
  • Measure blood ketones on waking using a portable blood ketone meter OR measure urine ketones on waking w/urine dipsticks. 2
  • Continuous glucose monitoring can be helpful for many.
At least several times per month to identify periods of suboptimal metabolic control; goal is to maintain blood ketone/beta-OH-butyrate concentrations <0.3 mmol/L
Neuromuscular/
Musculoskeletal
  • Direct & functional neuromuscular assessment of strength & endurance
  • Assessment of exercise tolerance & pain
  • PT assessment in children incl gross & fine motor skills
  • In adults: musculoskeletal assessment for alterations in alignment (hypermobility, ↑ width of base of support, anterior pelvic tilt, genu valgum & recurvatum, hindfoot valgus, & forefoot varus) & assessment for adaptive equipment
  • Annual neuromuscular, PT, & musculoskeletal assessments in adults based on signs/symptoms
  • Follow-up assessments (e.g., muscle ultrasound, dynamometry) based on physical status, function, & symptoms
  • Note: Statins can worsen myopathy.
Cardiomyopathy
  • NT-proBNP, CK-MB
  • Electrocardiogram
  • Echocardiogram
  • Additional investigations (e.g., heart MRI) may be indicated.
  • GSD IIIa: every 12-24 mos
  • GSD IIIb: every 5 yrs
  • Note: Exercise restriction is usually not recommended.
Gastrointestinal/
Nutrition/Growth
  • Measure height, weight, & head circumference to monitor growth.
  • Assess & optimize dietary intake for exercise & activity levels.
Frequency based on age of affected person
Skeletal Serum calcium & 25(OH)-vitamin DEvery 12 mos
Measure bone mineral density.On average every 4-5 yrs, starting in childhood
Orthopedic consultationAs needed
Endocrine Eval of signs of hirsutism, hyperandrogenism, & insulin resistance
  • In females at each visit, as females w/GSD III may develop polycystic ovaries from a young age
  • Avoid estrogen (may contribute to hepatocellular neoplasm).

ALT = alanine transaminase; AST = aspartate aminotransferase; B-type natriuretic peptide = BNP; CK = creatine kinase; NT = N-terminal; PT = physical therapy

1.

Hypoglycemia is uncommon in older children and adults on waking since counterregulation can raise blood glucose concentrations; however, monitoring blood glucose concentrations preprandially can reveal periods of suboptimal control.

2.

Elevated ketones reflect poor metabolic control, as ketones are produced when glucose is unavailable and instead fatty acid oxidation is used as a source of energy.

From: Glycogen Storage Disease Type III

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