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Metachromatic leukodystrophy

Muller Journal of Medical Sciences and Research, 2013
Metachromatic leukodystrophy or Scholz′s disease is a rare disorder transmitted as an autosomal recessive trait, leading to demyelination and neurological impairment.
Prima Cheryl D′souza, Archanaa Vignesh, K Subaschandra, P John Mathai   +3 more
doaj   +4 more sources

Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes [PDF]

Neurology International
Background: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder that causes demyelination of both the central (CNS) and peripheral nervous systems (PNS). Objective: This study aims to report a unique MLD case presenting with cranial
Ruben Jauregui, Mekka R. Garcia, Thomas Mehuron, Steven L. Galetta, Devorah Segal   +4 more
doaj   +2 more sources

A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY

Pakistan Armed Forces Medical Journal, 2022
Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
doaj   +1 more source

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, 2023
Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter.
Murtadha Al‐Saady, Shanice Beerepoot, Bonnie C. Plug, Marjolein Breur, Hristina Galabova, Petra J. W. Pouwels, Jaap‐Jan Boelens, Caroline Lindemans, Peter M. vanHasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S. van derKnaap, Nicole I. Wolf   +13 more
doaj   +1 more source

A case of adult-onset metachromatic leukodystrophy beginning with behavioral symtoms

Klinik Psikiyatri Dergisi, 2023
Metachromatic leukodystrophy is a rare inherited disorder of the nervous system with great clinical variability characterized by loss of both cognitive and motor functions upon extensive white matter damage by the accumulation of sulfatides.
Hazan Tunalı, Süheyla Ünal, Ceren Acar, Emel Sağlar Özer   +3 more
doaj   +1 more source

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

Frontiers in Medicine, 2020
Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems.
Alisa A. Shaimardanova, Daria S. Chulpanova, Daria S. Chulpanova, Valeriya V. Solovyeva, Valeriya V. Solovyeva, Aysilu I. Mullagulova, Kristina V. Kitaeva, Cinzia Allegrucci, Albert A. Rizvanov   +8 more
doaj   +1 more source

Metachromatic leukodystrophy associated with choledochal cysts and gallbladder papillomatosis

Journal of Pediatric Surgery Case Reports, 2019
Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A which is responsible for the desulfation of cerebroside sulfate, a myelin glycolipid.
Raed Al-Taher, Fareed Khdair Ahmad, Mohammad Rashdan, Ibrahim Khrais, Sahar Almustafa   +4 more
doaj   +1 more source

Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

JIMD Reports, 2023
Metachromatic leukodystrophy (MLD) due to Sap‐B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to form four active ...
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth   +7 more
doaj   +1 more source

Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice

Lipids in Health and Disease, 2011
Lysosomal storage diseases are a group of disorders where accumulation of catabolites is manifested in the lysosomes of different cell types. In metachromatic leukodystrophy (Arylsulfatase A [EC.3.1.6.8] deficiency) storage of the glycosphingolipid ...
Månsson Jan-Eric, Gieselmann Volkmar, Blomqvist Maria   +2 more
doaj   +1 more source

Infantile Metachromatic Leukodystrophy: Case Report

Case Reports in Clinical Practice, 2023
Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms.
Salsabeel Hamad, Israa Abufara, Safaa Zagharneh, Taimaa Abureesh, Afnan W. M. Jobran   +4 more
doaj   +1 more source