Table 5.

Recommended Surveillance for Individuals with Deoxyguanosine Kinase Deficiency

System/ConcernEvaluationFrequency
General Monitor fasting blood sugar.During infancy
Neurodevelopment
  • Neurologic assessment
  • Assess developmental progress (particularly gross motor skills) & educational needs.
At each visit in those w/neonatal multisystem disease
Hepatic function & hepatocellular carcinoma
  • Assess weight gain & nutritional status.
  • Monitor serum concentrations of ALT, AST, GGT, bilirubin, albumin, & coagulation profile.
At each visit
AFP & abdominal ultrasound to monitor for HCCEvery 3 mos
Renal disease Urinalysis & urine amino acids for proteinuria & aminoaciduriaAt each visit in those w/isolated hepatic disease
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit

AFP = alpha fetoprotein; ALT = alanine aminotransferase; AST = aspartate aminotransferase; GGT = gammaglutamyltransferase; HCC = hepatocellular carcinoma

From: Deoxyguanosine Kinase Deficiency

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