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Multiple sulfatase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Multiple sulfatase deficiency (MSD) was reported in 1965 by Austin, Armstrong and Shearer [1] as a metachromatic leukodystrophy (MLD) in which there were also features of mucopolysaccharidosis. The disease has been referred to as Austin disease. Deficient activity of a number of sulfatases led to the designation of MSD [2]. At least seven enzymes are now known to be deficient [2–5]. The fundamental defect [6– 7] represents a novel mechanism of disease in which the mutation is in an enzyme responsible for post-translational change of a cysteine moiety of each of the sulfatases, a change that normally conveys activation of the enzyme (Figure 99.1). This cysteine is conserved in each of the sulfatases (Table 99.1). It is converted to 2-amino-3-oxopropionic acid (formylglycine) (Figure 99.1) [8].
Still More ICD-10-CM Updates!
Published in Oncology Issues, 2018
There was no change to code E75.2 (other sphingolipidosis), but one new subcategory was added and another included a revised definition: Code E75.26 (sulfatase deficiency), multiple sulfatase deficiency was added.Code E75.29 (other sphingolipidosis) was not changed but “sulfatase deficiency” was deleted from the definition.
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
Published in Expert Review of Neurotherapeutics, 2020
Mahmoud Reza Ashrafi, Man Amanat, Masoud Garshasbi, Reyhaneh Kameli, Yalda Nilipour, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli
The classification of inherited leukoencephalopathies based on their pathologies was proposed in 2017 [7]. It was suggested that heritable white matter disorders can be divided into five main categories based on the involvement of CNS structures: Myelin disorders due to the predominant defects in oligodendrocytes and/or myelin. This category constitutes three main subgroups: Hypomyelinating: PMD, hypomyelination of early myelinated structures (HEMS), Pelizaeus-Merzbacher-like disease (PMDL), peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease (PCWH), hypomyelination with congenital cataracts (HCC), Pol III leukodystrophies, VPS11-, PYCR2-, RARS-, AIMP1-, and HSPD1-related leukodystrophies [42,43]Demyelinating: MLD, Krabbe disease, X-ALD, and multiple sulfatase deficiency [44–47]myelinvacuolization: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS), Kearns-Sayre syndrome (KSS), myoclonic epilepsy with ragged red fibers (MERRF) syndrome, leber optic atrophy, Inborn error metabolisms, Canavan, and Charcot-Marie-Tooth disease, X-linked (CMTX) [48–51]Astrocytopathies: Megalencephalic leukoencephalopathy (MLC), AxD, vanishing white matter (VWM), AGS, giant axonal neuropathy (GAN), ODDD, and chloride Ion channel 2(ClC2)-related leukodystrophy [52–57]Leuko-axonopathies: Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC), HCC, GM1 gangliosidosis, Tay-Sachs, Pol III leukodystrophy, hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), GAN, Zellweger sundrome, AGC1-, AIMP1-, and HSPD1-related leukodystrophies [58–63]Microgliopathies: X-ALD, MLD, Nasu-Hakola disease, ALSP [64–66]Leuko-vasculopathies: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL), Cerebral amyloid angiopathy (CAA), leukoencephalopathy with calcifications and cysts (LCC) [67–69]