Medical Conditions

Adrenoleukodystrophy (ALD) in Babies

Medically reviewed by Dr. Michael Okonkwo, MD, FAAP · Board-Certified Neonatologist

Content reviewed against published NIH, NIH, ALD Alliance guidelines

Editorial policy

Last reviewed:

If your baby has been diagnosed with or you suspect adrenoleukodystrophy (ald) in babies, here is what the evidence says.

The short answer

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting about 1 in 17,000 newborns, caused by mutations in the ABCD1 gene on the X chromosome. It primarily affects boys and impairs the breakdown of very long-chain fatty acids (VLCFAs), which accumulate and damage the myelin sheath in the brain and the adrenal glands. The most severe form, cerebral ALD, typically affects boys between ages 4-10 with rapid neurological decline. Newborn screening now enables early detection, and hematopoietic stem cell transplant or gene therapy performed before significant brain involvement can be life-saving.

Key takeaways

  • X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting about 1 in 17,000 newborns, caused by mutations in the ABCD1 gene on the X chromosome. It primarily affects boys and impairs the breakdown of very long-chain fatty acids (VLCFAs), which accumulate and damage the myelin sheath in the brain and the adrenal glands. The most severe form, cerebral ALD, typically affects boys between ages 4-10 with rapid neurological decline. Newborn screening now enables early detection, and hematopoietic stem cell transplant or gene therapy performed before significant brain involvement can be life-saving.
  • Usually normal when: Your boy was identified through newborn screening, is developing normally, and MRIs show no brain changes
  • Call your doctor if: Your boy with known ALD has vomiting, extreme weakness, confusion, or collapse — this may indicate adrenal crisis, which is life-threatening and requires emergency cortisol injection and immediate medical care
  • Varies by age — see the age-by-age breakdown below
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What Parents Should Know

According to NIH, ALD Alliance guidelines, x-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting about 1 in 17,000 newborns, caused by mutations in the ABCD1 gene on the X chromosome. It primarily affects boys and impairs the breakdown of very long-chain fatty acids (VLCFAs), which accumulate and damage the myelin sheath in the brain and the adrenal glands. The most severe form, cerebral ALD, typically affects boys between ages 4-10 with rapid neurological decline. Newborn screening now enables early detection, and hematopoietic stem cell transplant or gene therapy performed before significant brain involvement can be life-saving. At 0-6 months, aLD is increasingly detected through newborn screening, which measures elevated C26:0-lysophosphatidylcholine (C26:0-LPC) in dried blood spots. Boys identified through newborn screening typically appear completely healthy. Confirmatory testing includes plasma VLCFA levels and ABCD1 genetic testing. If confirmed, boys are placed on a monitoring schedule with regular MRI scans and adrenal function testing. Early identification is crucial because intervention before brain disease appears yields the best outcomes. It is generally considered normal when your boy was identified through newborn screening, is developing normally, and MRIs show no brain changes. However, you should contact your pediatrician promptly if your boy with known ALD has vomiting, extreme weakness, confusion, or collapse — this may indicate adrenal crisis, which is life-threatening and requires emergency cortisol injection and immediate medical care.

Sources: [1], [2], [3]

Normal vs. Concerning

Usually Normal
Worth Discussing
Your boy was identified through newborn screening, is developing normally, and MRIs show no brain changes
Your boy with known ALD has vomiting, extreme weakness, confusion, or collapse — this may indicate adrenal crisis, which is life-threatening and requires emergency cortisol injection and immediate medical care
Your boy's adrenal function is normal or is well managed with cortisol replacement
Your boy has rapid behavioral or neurological changes (vision loss, difficulty walking, personality change) — urgent MRI and neurology evaluation are needed
Your boy is on regular MRI surveillance and all scans have been stable
Your son's newborn screening was positive for ALD and you are awaiting or have received confirmatory results
Your boy received a stem cell transplant or gene therapy early and neurological function is preserved
Your boy with ALD has increasing fatigue, skin darkening, salt craving, or vomiting that may indicate adrenal insufficiency

By Age

What to expect by age

0-6 months

ALD is increasingly detected through newborn screening, which measures elevated C26:0-lysophosphatidylcholine (C26:0-LPC) in dried blood spots. Boys identified through newborn screening typically appear completely healthy. Confirmatory testing includes plasma VLCFA levels and ABCD1 genetic testing. If confirmed, boys are placed on a monitoring schedule with regular MRI scans and adrenal function testing. Early identification is crucial because intervention before brain disease appears yields the best outcomes.

6-12 months

Boys with ALD detected by newborn screening continue to develop normally during infancy. There are typically no neurological symptoms at this age. However, adrenal insufficiency (Addison disease) can occasionally present in infancy with vomiting, poor feeding, skin darkening, salt craving, or adrenal crisis during illness. Baseline adrenal function (cortisol and ACTH levels) should be checked. If adrenal insufficiency is present, cortisol replacement therapy is started.

1-3 years

Toddlers with ALD remain neurologically normal. Adrenal function should be monitored at least annually, as adrenal insufficiency can develop at any age and often precedes neurological symptoms. MRI surveillance (typically every 6-12 months) watches for the earliest signs of cerebral demyelination. If early MRI changes appear, referral for hematopoietic stem cell transplant or gene therapy (elivaldogene autotemcel/Skysona) is urgent, as these treatments work best before symptoms appear.

3+ years

The highest-risk period for cerebral ALD onset is between ages 4-10. Early signs include behavioral changes, school difficulties, vision problems, or difficulty with coordination. MRI monitoring remains essential. If MRI shows early cerebral involvement (Loes score 0.5-9), stem cell transplant or gene therapy should be considered urgently. Lorenzo's Oil (a mixture of oleic and erucic acids) may lower VLCFA levels but has not been proven to prevent cerebral disease. Ongoing adrenal monitoring and cortisol replacement if needed are lifelong requirements.

What to Tell Your Pediatrician

  • Describe when you first noticed adrenoleukodystrophy (ald) in babies and how it has changed over time.
  • Note your baby's current age and which age-specific patterns you are seeing.
  • Mention if your son's newborn screening was positive for ALD and you are awaiting or have received confirmatory results.
  • Mention if your boy with ALD has increasing fatigue, skin darkening, salt craving, or vomiting that may indicate adrenal insufficiency.
  • Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
  • Bring a list of any questions or observations you want to discuss at the appointment.

What Should You Do?

When to take action

Probably normal when...
  • Your boy was identified through newborn screening, is developing normally, and MRIs show no brain changes
  • Your boy's adrenal function is normal or is well managed with cortisol replacement
  • Your boy is on regular MRI surveillance and all scans have been stable
  • Your boy received a stem cell transplant or gene therapy early and neurological function is preserved
Mention at your next visit when...
  • Your son's newborn screening was positive for ALD and you are awaiting or have received confirmatory results
  • Your boy with ALD has increasing fatigue, skin darkening, salt craving, or vomiting that may indicate adrenal insufficiency
  • Your boy with ALD has any behavioral changes, difficulty in school, or changes in coordination or vision
Act now when...
  • Your boy with known ALD has vomiting, extreme weakness, confusion, or collapse — this may indicate adrenal crisis, which is life-threatening and requires emergency cortisol injection and immediate medical care
  • Your boy has rapid behavioral or neurological changes (vision loss, difficulty walking, personality change) — urgent MRI and neurology evaluation are needed

What You Can Do at Home

  • Keep track of when you notice adrenoleukodystrophy (ald) in babies — noting the time of day, duration, and any triggers can help your pediatrician.
  • Remember that your boy was identified through newborn screening, is developing normally, and MRIs show no brain changes — this is generally within the range of normal.
  • At 0-6 months, focus on observation rather than intervention unless your pediatrician advises otherwise.
  • Follow any care instructions from your pediatrician. Keep a written log of symptoms to bring to appointments.
  • While monitoring at home, seek immediate care if your boy with known ALD has vomiting, extreme weakness, confusion, or collapse — this may indicate adrenal crisis, which is life-threatening and requires emergency cortisol injection and immediate medical care.

Abnormal Newborn Screening Results

An abnormal or positive newborn screening result means that further testing is needed, not that your baby definitely has a condition. Most positive screens turn out to be false positives after confirmatory testing. Newborn screening tests are intentionally sensitive to avoid missing any affected babies, so follow-up testing is essential to determine whether the result is a true positive.

My Baby Lost Skills They Previously Had

Temporary regression in skills can be normal during periods of rapid growth, illness, stress, or when a baby is intensely focused on developing a new skill. However, true developmental regression - the sustained loss of previously acquired skills such as words, social engagement, or motor abilities - is always a reason to seek prompt medical evaluation. This is especially concerning if multiple skill areas are affected simultaneously.

Milestone

Month-by-Month Development

Detailed monthly development guides from birth through 24 months.

Guide

When to Call the Doctor

General guide on when to call the pediatrician, visit urgent care, or go to the ER.

Frequently asked questions

Is adrenoleukodystrophy (ald) in babies normal?
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting about 1 in 17,000 newborns, caused by mutations in the ABCD1 gene on the X chromosome. It primarily affects boys and impairs the breakdown of very long-chain fatty acids (VLCFAs), which accumulate and damage the myelin sheath in the brain and the adrenal glands. The most severe form, cerebral ALD, typically affects boys between ages 4-10 with rapid neurological decline. Newborn screening now enables early detection, and hematopoietic stem cell transplant or gene therapy performed before significant brain involvement can be life-saving.
When should I call the doctor about adrenoleukodystrophy (ald) in babies?
Your boy with known ALD has vomiting, extreme weakness, confusion, or collapse — this may indicate adrenal crisis, which is life-threatening and requires emergency cortisol injection and immediate medical care Your boy has rapid behavioral or neurological changes (vision loss, difficulty walking, personality change) — urgent MRI and neurology evaluation are needed
When is adrenoleukodystrophy (ald) in babies normal?
Your boy was identified through newborn screening, is developing normally, and MRIs show no brain changes Your boy's adrenal function is normal or is well managed with cortisol replacement Your boy is on regular MRI surveillance and all scans have been stable
What causes adrenoleukodystrophy (ald) in babies?
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting about 1 in 17,000 newborns, caused by mutations in the ABCD1 gene on the X chromosome. It primarily affects boys and impairs the breakdown of very long-chain fatty acids (VLCFAs), which accumulate and damage the myelin sheath in the brain and the adrenal glands. The most severe form, cerebral ALD, typically affects boys between ages 4-10 with rapid neurological decline. Newborn screening now enables early detection, and hematopoietic stem cell transplant or gene therapy performed before significant brain involvement can be life-saving. Common explanations include: Your boy was identified through newborn screening, is developing normally, and MRIs show no brain changes. Your boy's adrenal function is normal or is well managed with cortisol replacement.
What should I mention to my pediatrician about adrenoleukodystrophy (ald) in babies?
You should mention adrenoleukodystrophy (ald) in babies at your next visit if: Your son's newborn screening was positive for ALD and you are awaiting or have received confirmatory results. Your boy with ALD has increasing fatigue, skin darkening, salt craving, or vomiting that may indicate adrenal insufficiency. Your boy with ALD has any behavioral changes, difficulty in school, or changes in coordination or vision.
Is adrenoleukodystrophy (ald) in babies normal at 0-6 months?
ALD is increasingly detected through newborn screening, which measures elevated C26:0-lysophosphatidylcholine (C26:0-LPC) in dried blood spots. Boys identified through newborn screening typically appear completely healthy. Confirmatory testing includes plasma VLCFA levels and ABCD1 genetic testing. If confirmed, boys are placed on a monitoring schedule with regular MRI scans and adrenal function testing. Early identification is crucial because intervention before brain disease appears yields the best outcomes.
Is adrenoleukodystrophy (ald) in babies normal at 6-12 months?
Boys with ALD detected by newborn screening continue to develop normally during infancy. There are typically no neurological symptoms at this age. However, adrenal insufficiency (Addison disease) can occasionally present in infancy with vomiting, poor feeding, skin darkening, salt craving, or adrenal crisis during illness. Baseline adrenal function (cortisol and ACTH levels) should be checked. If adrenal insufficiency is present, cortisol replacement therapy is started.
Should I go to the ER for adrenoleukodystrophy (ald) in babies?
Seek emergency care if your boy with known ALD has vomiting, extreme weakness, confusion, or collapse — this may indicate adrenal crisis, which is life-threatening and requires emergency cortisol injection and immediate medical care, or if your boy has rapid behavioral or neurological changes (vision loss, difficulty walking, personality change) — urgent MRI and neurology evaluation are needed. When in doubt, call your pediatrician's after-hours line for guidance.
Does adrenoleukodystrophy (ald) in babies go away on its own?
In many cases, adrenoleukodystrophy (ald) in babies resolves on its own, especially when your boy was identified through newborn screening, is developing normally, and MRIs show no brain changes. By 3+ years, the highest-risk period for cerebral ALD onset is between ages 4-10. Early signs include behavioral changes, school difficulties, vision problems, or difficulty with coordination. MRI monitoring remains essential. If MRI shows early cerebral involvement (Loes score 0.5-9), stem cell transplant or gene therapy should be considered urgently. Lorenzo's Oil (a mixture of oleic and erucic acids) may lower VLCFA levels but has not been proven to prevent cerebral disease. Ongoing adrenal monitoring and cortisol replacement if needed are lifelong requirements.
NIHNIHALD ALLIANCE

References

  1. [1]National Library of Medicine. X-Linked Adrenoleukodystrophy. GeneReviews, 2023. NIH
  2. [2]National Library of Medicine. X-Linked Adrenoleukodystrophy. MedlinePlus Genetics, 2023. NIH
  3. [3]ALD Alliance. Understanding ALD: Information for Families. ALD Alliance, 2024. ALD Alliance

Doctor Visit Checklist

Bring this checklist to your next pediatrician visit to discuss Adrenoleukodystrophy (ALD) in Babies.

Things to mention

  • Describe when you first noticed adrenoleukodystrophy (ald) in babies and how it has changed over time.
  • Note your baby's current age and which age-specific patterns you are seeing.
  • Mention if your son's newborn screening was positive for ALD and you are awaiting or have received confirmatory results.
  • Mention if your boy with ALD has increasing fatigue, skin darkening, salt craving, or vomiting that may indicate adrenal insufficiency.
  • Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
  • Bring a list of any questions or observations you want to discuss at the appointment.

Observations to share

  • Your son's newborn screening was positive for ALD and you are awaiting or have received confirmatory results
  • Your boy with ALD has increasing fatigue, skin darkening, salt craving, or vomiting that may indicate adrenal insufficiency
  • Your boy with ALD has any behavioral changes, difficulty in school, or changes in coordination or vision

Urgent signs to report immediately

  • Your boy with known ALD has vomiting, extreme weakness, confusion, or collapse — this may indicate adrenal crisis, which is life-threatening and requires emergency cortisol injection and immediate medical care
  • Your boy has rapid behavioral or neurological changes (vision loss, difficulty walking, personality change) — urgent MRI and neurology evaluation are needed

My notes

From ismybabyalright.com — free, evidence-based baby health guides

All content follows our editorial policy and is reviewed against published clinical guidelines.

2,705 evidence-based guides6 authoritative medical sources5 medical advisory board members

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Bottom line

Most cases of adrenoleukodystrophy (ald) in babies are normal. Talk to your pediatrician if your boy with known ald has vomiting, extreme weakness, confusion, or collapse — this may indicate adrenal crisis, which is life-threatening and requires emergency cortisol injection and immediate medical care.

Trust your instincts. If something feels wrong, reach out to your pediatrician. Worrying about your baby means you care — that is a good thing.

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An abnormal or positive newborn screening result means that further testing is needed, not that your baby definitely has a condition. Most positive screens turn out to be false positives after confirmatory testing. Newborn screening tests are intentionally sensitive to avoid missing any affected babies, so follow-up testing is essential to determine whether the result is a true positive.

My Baby Lost Skills They Previously Had

Temporary regression in skills can be normal during periods of rapid growth, illness, stress, or when a baby is intensely focused on developing a new skill. However, true developmental regression - the sustained loss of previously acquired skills such as words, social engagement, or motor abilities - is always a reason to seek prompt medical evaluation. This is especially concerning if multiple skill areas are affected simultaneously.

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How to Advocate for Your Child's Needs

You know your child better than anyone, and your observations matter. If you feel something is not right with your child's development or health, you have every right to ask questions, request evaluations, and seek second opinions. Advocating for your child is not being difficult - it is being a good parent.