Year: 2020
Type: article
Study design: Case Report
Abstract: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. Demyelination and neurodegeneration, causing multiple and ultimately lethal neurological symptoms is the hallmark of MLD. Though it is a rare disease of frequency 1/100,000 live birth, typical history and brain imaging is being reported here.
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W3119129293