Calls for Ukraine
Calls for Europe
Calls for USA

All news

Metachromatic leukodystrophy treatment

Metachromatic leukodystrophy (MLD) — an inherited disorder that causes a wide range of neurological symptoms and ultimately leads to premature death.

The incidence is 1-2 people per 100,000,

  • MLD affects people of all ages,
  • More often MLD is detected in children under 2.5 years of age, less often in adults.

Diagnosis is made by laboratory tests of urine, blood, and cerebrospinal fluid, as well as imaging (MRI, ENMG) and DNA testing.

Metachromatic leukodystrophy is an incurable, fatal disease.

Treatment for MLD focuses on relieving symptoms.

MedTour patients recommend clinics for the treatment of metachromatic leukodystrophy:

Republic of Korea, Seoul
Samsung Medical Center
5.00
Excellent(5.001 review)
Admission fee:
from 100 USD
We do not charge a commission for our services
Apply
Turkey, Istanbul
Medipol University Hospital
5.00
Excellent(5.001 review)
Admission fee:
from 120 USD
We do not charge a commission for our services
Apply
Israel, Tel-Aviv
Sourasky Medical Center (Ichilov Clinic)
5.00
Excellent(5.001 review)
Admission fee:
from 600 USD
We do not charge a commission for our services
Apply
Turkey, Istanbul
LIV Hospitals
5.00
Excellent(5.001 review)
Admission fee:
from 120 USD
We do not charge a commission for our services
Apply
Turkey, Istanbul
Medical Park Hospitals Network
4.67
Excellent(4.676 reviews)
Admission fee:
from 130 USD
We do not charge a commission for our services
Apply
Turkey, Istanbul
Memorial Hospitals
4.22
Excellent(4.229 reviews)
Admission fee:
from 140 USD
We do not charge a commission for our services
Apply
Italy, Milan
San Raffaele Hospital
Admission fee:
from 300 USD
We do not charge a commission for our services
Apply
Germany, Hamburg
Hospital network «Asklepios»
Admission fee:
from 400 USD
We do not charge a commission for our services
Apply
Germany, Berlin
Helios Hospital Berlin-Buch
3.50
Good(3.502 reviews)
Admission fee:
from 280 USD
We do not charge a commission for our services
Apply
Spain, Barcelona
Hospital Quiron Barcelona
Admission fee:
from 450 USD
We do not charge a commission for our services
Apply
Spain, Barcelona, Madrid
HM Hospitals
Admission fee:
from 300 USD
We do not charge a commission for our services
Apply
Turkey, Istanbul
Hisar Hospital Intercontinental
Admission fee:
from 120 USD
We do not charge a commission for our services
Apply
Republic of Korea, Seoul
Seoul National University Hospital (SNUH)
Admission fee:
from 50 USD
We do not charge a commission for our services
Apply
Czech Republic, Prague
Motol University Hospital
3.00
Good(3.001 review)
Admission fee:
To be clarified
We do not charge a commission for our services
Apply
Germany, Krefeld (Dusseldorf)
Helios Krefeld clinic
4.00
Excellent(4.001 review)
Admission fee:
from 600 USD
We do not charge a commission for our services
Apply
Spain, Barcelona
Sant Joan de Déu Children’s Hospital
Admission fee:
To be clarified
We do not charge a commission for our services
Apply
Turkey, Istanbul
Okan University Hospital
Admission fee:
To be clarified
We do not charge a commission for our services
Apply
Turkey, Istanbul
Anadolu Medical Center
4.10
Excellent(4.1010 reviews)
Admission fee:
from 120 USD
We do not charge a commission for our services
Apply
Israel, Jerusalem
Hadassah Medical Center
5.00
Excellent(5.001 review)
Admission fee:
from 700 USD
We do not charge a commission for our services
Apply
Israel, Ramat Gan
Sheba Medical Center
4.67
Excellent(4.673 reviews)
Admission fee:
from 600 USD
We do not charge a commission for our services
Apply
20 clinics of 32 Show more

Frequently Asked Questions

1
What is metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) — a hereditary, constantly progressive pathology that leads to serious damage to the nervous system.

MLD belongs to a group of inherited metabolic disorders. Namely, to lysosomal storage diseases.

1
Why does metachromatic leukodystrophy develop

MLD is caused by a mutation in the ARSA gene on chromosome 22. Due to a genetic defect, the enzyme «Arylsulfatase A» (ARSA) isn`t produced.

In rare cases, the disease can develop due to a mutation in the PSAP gene on chromosome 10.

MLD is inherited in an autosomal recessive manner: both parents are healthy, but are carriers of the altered gene. The chance that a child will inherit a mutated gene is 25%.

1
How metachromatic leukodystrophy occurs

In every human cell, except red blood cells, there are lysosomes. These are cellular structures, the main function of which is the cleavage of various substances with the help of special proteins — enzymes.

Lipid «Cerebroside sulfate» — the most important part of the cell membrane of the nerves (myelin). The breakdown of cerebroside sulfate occurs in lysosomes using the enzyme «Arylsulfatase A». When this lipid is cleaved, building blocks are formed that leave the lysosomes and are involved in the formation of new nerve sheaths.

With a deficiency or absence of the enzyme «Arylsulfatase A», cerebroside sulfate isn`t cleaved, doesn`t leave the lysosome and accumulates in cells. As a result, there is a progressive loss of myelin, which cannot be re-formed. This, in turn, causes various neurological symptoms.

Sulfatide accumulates in the cells of the nervous system, kidneys, gallbladder and liver.

1
What are the forms of metachromatic leukodystrophy

MLD is divided into forms, depending on the age at which symptoms appear and how quickly the disease progresses.

There are three forms:

  • Infantile (60%) — up to 2.5 years,
  • Juvenile, or adolescent (20-30%) — from 2.5 to 16 years,
  • Adult (10-20%) — beginning after 16 years.

Each form progresses with an increase in movement disorders, loss of skills related to learning and behavior.

1
What are the manifestations of infantile metachromatic leukodystrophy

Infantile form: often children under 1-2 years of age develop normally and do not show any signs of illness. Early symptoms:

  • Children start walking later than their peers. It becomes difficult for them to stand and walk if they have already learned this,
  • Muscle weakness (hypotonia), sometimes increased muscle tension. Children often stumble and fall (spasticity),
  • Impaired coordination.

After a few months, due to muscle weakness, the child is unable to stand and balance.

After a couple of years, the acquired skills are lost. Epileptic seizures, hearing impairment, blindness are observed. Children complain of severe pain.

1
What are the symptoms of juvenile metachromatic leukodystrophy

Juvenile form:

  • Early: onset of the disease at 4-6 years of age.
    • Symptoms: violation of gait, movement, muscle spasticity, coordination problems. Epileptic seizures join.
  • Late: the disease manifests itself at 6-16 years of age.
    • Manifestations: Loss of motor function is observed, preceded by learning difficulties and behavioral disturbances.
1
How adult metachromatic leukodystrophy manifests itself

Adult form: develops after 16 years.

  • Symptoms: Mental and behavioral disturbances in the form of mood swings, personality changes and strange behaviors that cause difficulties at work or school. After some time — a regression of mental abilities and the development of dementia. Then movement disorders appear: spasticity, loss of coordination.

Over time, involuntary twisting movements, paralysis, epilepsy, hearing and vision problems, inability to control urination and defecation, as well as loss of speech and perception of the environment join.

1
What is the prognosis of metachromatic leukodystrophy

The course and severity of the disease, as well as life expectancy, depend on the age at which symptoms appear. Metachromatic leukodystrophy is characterized by continuous progression, high levels of disability and mortality.

Earlier the disease manifests itself, the faster it progresses. Conversely, the later MLD begins, the slower it develops.

  • Children with an infantile form now live up to 5-10 years. Most die within 5 years of the first symptoms.
  • The life expectancy of patients with a juvenile form reaches 20 years or more. Rarely do adolescents reach adulthood.
  • In the adult form, paralysis develops over several years and many patients live for several decades.

Modern methods of diagnosis and treatment of metachromatic leukodystrophy abroad

Diagnostics of the metachromatic leukodystrophy

It’s not difficult for an experienced doctor to diagnose MLD. Based on the available progressive neurological symptoms, the doctor will prescribe the following studies:

  • Laboratory tests:
    • Blood — used to determine the content and activity of the enzyme arylsulfatase A,
    • Urine — to detect the accumulation of cerebroside sulfate,
      MRI of the brain: visualizes changes in the white matter of the brain (loss of myelin),
  • Spinal cord puncture: cerebrospinal fluid is obtained to detect protein levels and arylsulfatase A deficiency.
  • Electroneuromyography: the doctor checks and evaluates the conduction of nerve impulses in response to nerve stimulation,
  • Molecular Genetic DNA Testing:
    • Prenatal testing (during pregnancy),
    • Preimplantation genetic testing for MLD.

Metachromatic leukodystrophy treatment

It’s important to diagnose MLD as early as possible in order to start therapy immediately.

Treatment is aimed at relieving symptoms and compensating for disability.

Symptomatic therapy:

  • Epileptic seizures are treated with medication,
  • Depression or anxiety is treated with sedatives or antidepressants.
  • With severe spasticity, the doctor prescribes muscle relaxants.

Dysphagia and nutritionists can help children who have difficulty sucking and swallowing food or liquids.

Habilitation

Habilitation is support and treatment for people with congenital or early disabilities. The habilitation team has knowledge of how to prevent and reduce the difficulties in daily life caused by disability.

Parents of a child with MLD receive recommendations on how to adapt the child to the home and environmental conditions.

Palliative care

Children with an infantile form live for several years and die early. Palliative care provides painless last months of a child’s life.

Published:

Updated:

Ilona Baidiuk
Medical author:
PhD. Olexandr Voznyak
Medical expert:

Information on this webpage verified by the medical expert

Kateryna Maliarchuk
Medical Doctor, oncologist, PHD student
Do you have any questions?
Get a free consultation from our experts.