Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Deoxyguanosine Kinase Deficiency

System/ConcernEvaluationComment
General Measurement of plasma lactate & fasting blood sugarIn those w/neonatal multisystem disease
Neurologic
  • Comprehensive neurologic exam
  • Developmental/cognitive assessment
  • Brain MRI may be considered.
Hepatic
  • Eval of hepatic status by physician familiar w/care of children w/liver failure
  • Initial testing should incl measurement of serum concentrations of ALT, AST, GGT, bilirubin, albumin, & coagulation profile.
  • Nutritional assessment by dietician w/experience in managing children w/hepatic failure
Abdominal ultrasound & AFP to screen for HCCAFP is a sensitive, but not specific, marker to differentiate HCC from nonmalignant liver disease. 1
Renal Urinalysis & urine amino acids to evaluate for renal involvementIn those w/isolated hepatic disease
Genetic counseling By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of DGUOK deficiency to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

AFP = alpha fetoprotein; ALT = alanine aminotransferase; AST = aspartate aminotransferase; GGT = gammaglutamyltransferase; HCC = hepatocellular carcinoma; MOI = mode of inheritance

1.

Although the value of a highly elevated serum AFP in the detection of hepatocellular carcinoma in DGUOK deficiency is not known, the possibility of hepatocellular carcinoma should be considered in individuals with a solid tumor detected by abdominal ultrasound examination and a highly increased serum AFP concentration [Freisinger et al 2006].

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Deoxyguanosine Kinase Deficiency

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