Metachromatic Leukodystrophies Quiz
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Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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Learn more about Metachromatic leukodystrophies
Content updated on Sep 20, 2022
What is metachromatic leukodystrophies?
Metachromatic leukodystrophy (MLD) or sulfatide lipidosis is a rare genetic disease that causes progressive destruction of the nervous system and causes fatty substances (lipids) to build up in cells, particularly in the brain, spinal cord and nerves. This buildup due to deficiency of an enzyme called sulfatides which helps break down lipids.
Symptoms of metachromatic leukodystrophies
Unable to move both arms
Difficulty in walking
Unable to move both legs
Stiff, rigid muscles causing difficulty bending joints
Weakness in arms or legs
Child is developing slower than his or her peers
Questions your doctor may ask to check for metachromatic leukodystrophies
Your doctor may ask these questions to diagnose metachromatic leukodystrophies
Are you unable to move both arms?
Do you have any difficulty walking?
Are you unable to move both legs?
Do you have stiff muscle and/or joints that are not flexible even with assistance?
Do you feel any weakness in your arms or legs?
Treatment for metachromatic leukodystrophies
No curative treatment is currently available for MLD. Treatment involves preventing nerve damage and slowing progression of the disease. Stem cell or bone marrow transplant may help slow down disease progression in some patients.
View the symptoms of Metachromatic leukodystrophies
Diseases related to Metachromatic leukodystrophies
References
Farooqui AA, Horrocks LA. Biochemical aspects of globoid and metachromatic leukodystrophies. Neurochem Pathol. 1984 Fall;2(3):189-218. doi: 10.1007/BF02834352. PMID: 6152665.
https://link.springer.com/article/10.1007/BF02834352
Reviewed By:
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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Seiji Kanazawa, MD, PHD
Obstetrics and gynecology (OBGYN)
National Center for Child Health and Development, Japan