KOREA ALD 한국어

X-linked Adrenoleukodystrophy

What is known,
and what is not yet known

ALD is an inherited metabolic disease in which a defect in the ABCD1 gene causes saturated very long chain fatty acids to accumulate, damaging the nervous system and the adrenal glands. The same variant produces entirely different diseases in different people.

There is very little material on this disease available in Korean. This site sets out what is known, drawing on published research and the international consensus recommendations.

Start with the disease Treatment today →
Phenotypes

One disease, entirely different forms

What applies to cerebral ALD does not apply to adrenomyeloneuropathy, and the reverse is equally true.

Childhood · rapid

Cerebral ALD

Inflammation that switches on at some point and progresses within months. It must be found on brain MRI before symptoms appear — the timing of detection decides the outcome.

Symptoms · surveillance · timing Read more → Adulthood · slow

Adrenomyeloneuropathy

The course most men carrying an ABCD1 variant eventually follow. The spinal cord is damaged over years, and surveillance for cerebral conversion is needed alongside.

Gait · spasticity · sensation · bladder Read more → Women

Women with ALD

Women carrying an ABCD1 variant are patients, not carriers. They develop spinal cord symptoms; cerebral disease essentially does not occur.

Symptoms · diagnosis · misdiagnosis Read more → Adrenal

Adrenal Insufficiency

Common in males with ALD, and sometimes the first manifestation — before any neurological sign. The most easily missed and most dangerous part.

Symptoms · testing intervals · management Read more →
More

Background, policy and data

  1. I Treatment Early haematopoietic stem cell transplantation, leriglitazone, gene therapy (Skysona) and Lorenzo's oil — where each stands today. →
  2. II Why it happens, and why it differs between people ABCD1 and very long chain fatty acids, why the same variant becomes a different disease, and how understanding has shifted over the past decade. →
  3. III Newborn Screening In a disease where early detection decides everything, how detection is brought forward — and where Korea and other countries stand. →
  4. IV Diet Permitted, caution and restricted foods by group, Lorenzo's oil, and common problems. Based on the first ALD dietary guide published in Korea. →
  5. V Research and clinical trials Research carried out in Korea, and trials currently running worldwide. →
Community

Where people talk to each other

This site is where information is kept. Conversation between patients and families happens elsewhere — these communities are in Korean.

KakaoTalk groupWhere patients and families keep in touch. A password is needed to join — please ask via Contact. In Korean. ↗ ALD BridgeA Naver Cafe community for patients and families, in Korean. Requires a Naver account. ↗ Related blogNews and materials on ALD, in Korean. ↗
About

About this site

Basis

Written from published research and the 2022 international consensus recommendations. Sources are indicated within each page.

Review date

Every page carries a last-reviewed date. Medical information changes, so please read it alongside that date.

Scope

This site provides information. It does not replace medical care or consultation.

Corrections

Corrections and suggestions are welcome.