Table 12.

Recommended Surveillance for Individuals with Dihydrolipoamide Dehydrogenase Deficiency

System/ConcernEvaluationFrequency/Comment
Feeding Measurement of growth parameters & eval of nutritional status & safety of oral intakeAt each visit
Control of plasma
amino acid levels 		Full amino acid profile (either from plasma or filter paper)
  • For rapidly growing infants, monitoring weekly or 2x weekly
  • Routinely in older persons 1
Visit w/metabolic specialistAt least monthly in infancy
Delayed acquisition
of developmental
milestones 		Monitor developmental milestones. 2, 3At each visit or as needed
Hepatomegaly
  • Physical exam &/or US to assess size of liver
  • Blood measurements of liver transaminases & assessment of liver synthetic function
At each visit
Neurologic Physical exam to evaluate for peripheral neuropathy & EMG if clinically concerned 4
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Cardiomyopathy EchocardiogramAt least annually or based on clinical status
Eyes Ophthalmologic evalAs clinically indicated

OT = occupational therapy; PT = physical therapy; US = ultrasound

1.

The frequency of amino acid monitoring varies by age, metabolic stability, compliance, and regional clinical practice and should be guided by a biochemical geneticist in conjunction with a qualified metabolic nutritionist.

2.

The Denver Developmental Screening Test II or a comparable tool is useful for monitoring development of infants and young children.

3.

School-age children, adolescents, and adults should have neurocognitive testing if indicated by school performance or behavioral problems.

4.

In individuals receiving dichloroacetate.

From: Dihydrolipoamide Dehydrogenase Deficiency

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