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. 2022 Nov 22;99(21):940–951. doi: 10.1212/WNL.0000000000201374

Figure 3. Diagnostic Algorithm.

Figure 3

Ideally, biochemical and genetic testing are combined to establish diagnosis. *Male patients are stratified by clinical status. The clinical status of ALD is positive if any symptom or sign relatable to ALD is present. This can include cerebral ALD with symptoms, cerebral ALD based on MRI abnormalities only, myeloneuropathy, or adrenal insufficiency. If no symptoms or signs relatable to ALD are present, the clinical status is negative. **Sensitivity of C26:0-lysoPC is >99%, whereas it is 85% for VLCFA. Analyze C26:0-lysoPC in case of normal plasma VLCFA. ALD = adrenoleukodystrophy; VLCFA = very-long-chain fatty acid