X-linked Adrenoleukodystrophy (X-ALD)

Adrenoleukodystrophy (ALD) is an X-linked genetic disease that affects males most severely. ALD primarily affects the nervous system and the adrenal glands. ALD may cause progressive loss of the myelin sheath, which acts as an insulator for the nerves in the brain and spinal cord. This can result in a variety of neurological problems including cognitive, mobility, and sensory issues. ALD may also cause a deficiency of certain hormones due to damage to the adrenal glands. Adrenal insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma. If left untreated, the severe form of ALD can lead to critical and irreversible disabilities that can ultimately lead to death. Early diagnosis through newborn screening allows for proactive care, consistent monitoring, and lifesaving treatment.

Newborn Screening

Liquid chromatography-tandem mass spectrometry (LC-MS/MS)

Missouri newborn screening samples must only be collected on the Food and Drug Administration (FDA) approved blood collection forms that must be pre-purchased from the MSPHL. The optimum collection time is between 24 and 48 hours-of-age. The instructions for collecting the samples are listed on the back of the collection form. All 5 circles on the filter paper need to be filled with blood from one side and then air dried for at least 3 hours in a horizontal position without allowing the blood to touch any surface during drying, including other parts of the card. (Example on the right)

Rules for Collection

Store the dried blood samples at room temperature in the envelopes provided by the State Public Health Laboratory and transport within 24 hours of collection

Initial Screen (the red form) or Repeat Screen (the green form)

Included in kit

Normal: No action required.
Borderline Risk: Repeat the newborn screen.
High Risk: Diagnostic testing and consultation with a metabolic specialist is needed. Final results are phoned and faxed to physician/health care provider and appropriate follow-up center. Follow-up centers are contracted by the Department of Health and Senior Services (DHSS) for follow up tracking, testing, diagnosis and counseling.

Follow the Missouri NICU guidelines.

1 to 3 working days after receipt of specimen

$130 charge - for full panel of screening disorders

82726

N/A

For more information on ALD, please visit http://www.babysfirsttest.org/newborn-screening/conditions/adrenoleukodystrophy