Description of Medical ServiceNewborn bloodspot screening (NBS) aims to identify babies at risk of developing certain rare conditions and metabolic disorders where early intervention can improve health outcomes. More information is available on the Department of Health webpage for the Newborn bloodspot screening program.
X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene located on the X chromosome, and testing for it involves multiple sequential tests. First, mass spectrometry analysis is used to detect elevated levels of C26:0-lysophophatidylcholine (C26:0-LPC), a very long chain fatty acid that is accumulated in patients with X-ALD. This step can be combined with other screening currently conducted in Australian NBS programs. However, because other disorders may also lead to an elevated C26:0-LPC level, further testing is conducted to sequence the ABCD1 gene in samples that test positive using mass spectrometry.
In current practice, patients are typically diagnosed only after their X-ALD has manifested – delaying the commencement of treatment.
Description of Medical ConditionX-ALD is the most common peroxisomal disorder, affecting approximately 1.6 in 100,000 births in Australia and New Zealand, predominantly males. In addition, females tend to develop X-ALD later in life, and to develop a type of X-ALD that is untreatable. It affects the adrenal cortex and the central nervous system (brain inflammation and spinal cord/peripheral neuropathy), leading to health issues ranging from symptoms related to shortage of steroid hormone to progressive vision loss, neurocognitive impairment and early death. There are three types of X-ALD that account for about 90-95% of cases: a childhood cerebral form, adrenomyeloneuropathy and adrenal insufficiency only. The childhood cerebral form is the most common and severe causing progressive neuroregression, typically between the ages of 4 and 7 years of age, followed by death within 2 to 3 years of onset.
Reason for ApplicationInclusion in NBS
Medical Service TypeInvestigative technology
Previous Application Number/sNot Applicable
Newborn Bloodspot Screening Program Nomination FormNomination Form (PDF 201 KB)
Nomination Form (Word 47 KB)
Consultation SurveyConsultation Survey (PDF 315 KB)
Consultation Survey (Word 73 KB)
MSAC consultation TBA – please subscribe to the MSAC Email Bulletin to be notified when consultation opens for this application
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PICO ConfirmationPICO Confirmation (PDF 2483 KB)
PICO Confirmation (Word 1453 KB)