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Inborn errors of metabolism

X-linked adrenoleukodystrophy (X-ALD)

An inherited disease of the nervous system and the adrenal glands. Very long-chain fats build up. The sheath around the nerves and hormone production can be damaged.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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This page is translated from the Turkish original.

This disease is followed through the “Inborn errors of metabolism” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

A change in the ABCD1 gene disrupts the breakdown of very long-chain fats. These fats build up in the body. In the brain and spinal cord, the fatty sheath around the nerves, called myelin, can be damaged. The adrenal glands may also not make enough hormones.

Which symptoms can occur?

The disease has several forms. It can take a different course even within the same family.

  • In boys aged 4–10, attention and school problems (childhood brain form)
  • Difficulty with seeing, hearing and walking
  • In adults, increasing stiffness and weakness in the legs
  • Problems with bladder and bowel control
  • Adrenal insufficiency: tiredness, weight loss, darkening of the skin
  • Mild leg problems in later life in women who are carriers (common)

How is it diagnosed?

The first test measures very long-chain fats in the blood. The diagnosis is confirmed with a genetic test. A brain MRI and adrenal gland tests are done. In some countries, it is part of newborn screening.

Treatment and care

Boys who are diagnosed are followed with regular brain MRIs. If brain involvement is caught early, a stem cell (bone marrow) transplant can stop the disease from progressing. In the USA, there is an approved gene therapy for the early brain form. Adrenal insufficiency needs hormone replacement. Physiotherapy and supportive treatments make life easier. In Europe in 2026, a medicine taken by mouth was approved under exceptional circumstances for boys aged 2-12 whose brain involvement is at a very early stage. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on in an X-linked way. Males are usually more severely affected. A mother who is a carrier passes the change to each child with a chance of 1 in 2. An affected father passes the change to all his daughters but not to his sons. Genetic counselling is recommended.

Source: MedlinePlus Genetics: X-linked adrenoleukodystrophy · NORD: X-Linked Adrenoleukodystrophy · Avrupa İlaç Ajansı (EMA) — Nezglyal (leriglitazone) EPAR

Key facts

How is it inherited?
X-linked dominant
When does it usually start?
Adolescence, Adulthood, Childhood, Older age

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about X-ALD

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 8 active interventional studies for this disease. 3 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Inborn errors of metabolism: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:43

No separate ICD-11 code; WHO classifies this disease under: 5C57.1

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.