New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy)
نویسندگان
چکیده
منابع مشابه
Infantile Metachromatic Leucodystrophy.
Metachromatic leucodystrophy is an uncommon type of diffuse cerebral sclerosis. This condition is found at various ages, but it is convenient to classify cases into congenital, infantile, juvenile, and adult varieties. The infantile form, which presents a fairly constant clinical and pathological pattern, was first described by Greenfield (1933) who recorded two cases, and four further examples...
متن کاملcausing late infantile metachromatic leucodystrophy
Received 3 November 1993 Revised version accepted for publication 28 March 1994 Abstract Metachromatic leucodystrophy is an autosomal recessive degenerative disease of the nervous system caused by the deficiency of the lysosomal enzyme arylsulphatase A (ARSA). We report here on the high incidence of late infantile MLD among Muslim Arabs originating from Jerusalem, most probably because of a fou...
متن کامل[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects].
Scholz's disease or metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency in arylsulfatase A (ARSA: EC 3.1.6.8). This enzyme is responsible for the degradation of sulfatides commonly called cerebroside-3-sulfate or 3-O-sulfogalactosylcéramide in galactocérébroside and sulfate. The success of hydrolysis of these sphingolipids by ARSA necessarily depends on the ...
متن کاملThe Diagnosis of Metachromatic Leucodystrophy during Life.
Metachromatic leucodystrophy is deserving an increasing interest from neurologists and pediatricians, mainly because it is the only disease in the whole group of diffuse cerebral sclerosis amenable to an intra vitam diagnosis by means of bloodless procedures. The merit for this belongs to Austin 1 , who introduced a simple test to demonstrate metachromatic bodies in the urine sediment. Although...
متن کاملThe arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.
The lysosomal storage disorders share one common characteristic: the accumulation of a particular substrate inside the lysosome. Each disorder in this group is caused either by the deficiency of a lysosomal enzyme responsible for one step of the degradation pathway of a substrate, lack of a transporter involved in the movement of a small molecule across the lysosomal membrane, or absence of a l...
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ژورنال
عنوان ژورنال: Neurological Sciences
سال: 2021
ISSN: ['1590-3478', '1590-1874']
DOI: https://doi.org/10.1007/s10072-021-05412-x