Published in Journal of Neurology
Possible underlying organic causes of psychiatric symptoms can be overlooked in the clinical setting. It is important to increase awareness amongst psychiatric and neurological professionals with regard to certain inborn errors of metabolism as, in some cases, disease-specific therapies are available that can, for instance, treat underlying metabol...
Published in Clinica Chimica Acta
BackgroundTreatments are being developed for metachromatic leukodystrophy (MLD), suggesting the need for eventual newborn screening. Previous studies have shown that sulfatide molecular species are increased in the urine of MLD patients compared to samples from non-MLD individuals, but there is no data using dried blood spots (DBS), the most common...
Published in neurogenetics
Prosaposin (PSAP) gene mutations, affecting saposin B (Sap-B) domain, cause a rare metachromatic leukodystrophy (MLD) variant in which arylsulfatase A (ARSA) activity is normal. To date, only 10 different PSAP mutations have been associated with a total of 18 unrelated MLD patients worldwide. In this study, we report for the first time a family wit...
Published in Orphanet Journal of Rare Diseases
BackgroundMetachromatic leukodystrophy (MLD) is a rare, genetic neurodegenerative disease. It leads to progressive demyelination resulting in regression of development and early death. With regard to experimental therapies, knowledge of the natural course of the disease is highly important. We aimed to analyse onset and character of first symptoms ...
Published in Journal of Molecular Neuroscience
Metachromatic leukodystrophy is an autosomal recessive neurodegenerative disorder of the myelin metabolism due to the impaired function of the lysosomal enzyme arylsulfatase A. Three major clinical variants of metachromatic leukodystrophy (MLD) have been described: late infantile, juvenile, and late onset. The infantile form, whose clinical onset i...
Published in Pediatric Radiology
Gallbladder polyposis is a rare entity that can be associated with conditions such as metachromatic leukodystrophy (MLD), but the literature is sparse. We present a child with gallbladder polyposis who was diagnosed with MLD 15 months later despite normal neuroimaging and clinical examination initially.
Published in Lipids in Health and Disease
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 sulfatide in the brain leads to demyelination, resulting in neuromotor co-ordination deficits and reg...
Published in Journal of Neural Transmission
Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease due to deficiency or absence of arylsulfatase A enzyme (ASA) with sulfatide accumulation in the central and peripheral nervous system, kidneys, and gallbladder, leading to many dysfunctions. One of the clinical forms of the disease is a late juvenile MLD. To our...
Published in Encyclopedia of Movement Disorders, Three-Volume Set
Metachromatic leukodystrophy (MLD) is a genetic disease that occurs after a period of normal development. It primarily affects children but may occur at any age. MLD can present as a movement or behavioral disorder. MLD is a failure in the breakdown of sulfated myelin lipids and is usually due to a profound deficiency of the enzyme arylsulfatase A....
Metachromatic leukodystrophy (WILD) is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). The aim of the present study was to identify the molecular basis of MILD in Tunisian population. Two Tunisian patients with late infantile MILD were studied. Both patients were homozygous for a new mi...
