Table 4.

Recommended Evaluations and Next Steps for Infants with a Confirmed Positive Newborn Screening Result for X-Linked Adrenoleukodystrophy

System/ConcernIssueComment
Males at risk for primary adrenocortical insufficiency 1 Immediate referral to pediatric endocrinologist
  • Screening for ACTH & cortisol levels
  • Follow up per Pediatric Endocrine Society published guidance recommendations 1
Treatment of documented primary adrenocortical insufficiencyBy pediatric endocrinologist per published guidance recommendations 1
Institute plan for scheduled screening throughout childhood & adulthoodRecommended screening every 3-6 mos until age 10 yrs, then yearly thereafter 2
Males at risk for cCALD Referral to neurologist or biochemical geneticist to develop plan for neurologic & brain MRI monitoring to identify promptly those at risk for cCALD 3See Table 8 for age-related recommended intervals for repeat brain MRI.
Genetic counseling By genetics professionals 4
  • To inform affected persons & their families re nature, MOI, & implications of X-ALD to facilitate medical & personal decision making
  • To identify male relatives at risk for X-ALD (At-risk males may be identified by use of plasma or serum VLCFA levels or ABCD1 testing. Affected males should be evaluated as recommended in this table.)

ACTH = adrenocorticotropic hormone; CALD = cerebral adrenoleukodystrophy; cCALD = childhood cerebral adrenoleukodystrophy; VLCFA = very long-chain fatty acid; X-ALD = X-linked adrenoleukodystrophy

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Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: X-Linked Adrenoleukodystrophy

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