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Introduction to mucopolysaccharidoses
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Hurler disease was originally classified by McKusick as mucopolysaccharidosis type I [1]. With the recognition of the enzyme defect in α-L-iduronidase and the fact that defective activity of the same enzyme was also the cause of the Scheie syndrome [8], the subclassifications IH for Hurler and IS for Scheie were employed. The classification of the mucopolysaccharidoses and a summary of their clinical biochemical characteristics are shown in Table 75.1. The seven types of mucopolysaccharidosis represent the deficiencies of eleven specific enzymes. Prenatal diagnosis was initially carried out in Hurler and Hunter diseases by measuring labeled sulphate incorporation in cultured amniocytes [10].
How to master MCQs
Published in Chung Nen Chua, Li Wern Voon, Siddhartha Goel, Ophthalmology Fact Fixer, 2017
Mucopolysaccharidoses are a group of lysosomal storage diseases which are inherited in an autosomal recessive fashion with the exception of Hunter's syndrome which is X-linked. Although all of them can give rise to corneal clouding through deposition of accumulated metabolites, corneal clouding is only occasionally seen in Sanfilippo's syndrome and Hurler's syndrome.
Endocrinology
Published in Fazal-I-Akbar Danish, Essential Lists of Differential Diagnoses for MRCP with diagnostic hints, 2017
False-positive sweat Na+ test:1 Endocrinopathy (hypothyroidism; hypoparathyroidism; Addison’s disease).2 a1-antitrypsin deficiency.3 Mucopolysaccharidosis.
OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1
Published in Ophthalmic Genetics, 2023
Aslıhan Yılmaz Çebi, Mustafa Hepokur
A 27-year-old female with mucopolysaccharidosis type I (MPS I) was referred to our clinic. She had blurry vision for one month. She was diagnosed with MPS I (Scheie phenotype) ten years ago and was treated with enzyme replacement therapy (ERT) with alpha-L-iduronidase (Aldurazyme) at a weekly dose of 0.58 mg/kg for ten years. The best-corrected visual acuity in both eyes was 20/25 (refraction was +7.00D–4.00x155 OD and +7.25D–4.25x17 OS). Both cornea were clear, despite the presence of guttata on specular microscopy. There was no trace of cataract formation. Dilated fundus examination revealed bilateral pigmentary retinopathy, and fine radial abnormalities on the superotemporal side of macula (Figure 1). Optical coherence tomography (OCT) showed macular cysts in the inner and outer nuclear layers (INL and ONL) and central external limiting membrane thickening (Figure 2). The perifoveal ellipsoid zone and the IS/OS line have been preserved. Fluorescein angiography (FA) did not show any evidence of vascular dye leakage (Figure 3).
Antibodies to watch in 2022
Published in mAbs, 2022
Hélène Kaplon, Alicia Chenoweth, Silvia Crescioli, Janice M. Reichert
JCR Pharmaceuticals announced in March 2021 that Japan’s Ministry of Health, Labour and Welfare (MHLW) approved IZCARGO® for the treatment of MPS-II.62 Pabinafusp alfa received SAKIGAKE designation in Japan; it has also been granted Fast Track designation by FDA and Orphan Drug designation by the EMA. The approval in Japan was supported by the results from a single-arm Phase 2/3 study (NCT03568175) of 28 Japanese patients with mucopolysaccharidosis II who were administered 2.0 mg/kg of pabinafusp alfa once per week for 52 weeks. The primary outcome measure was the change from baseline in heparan sulfate levels, a biomarker for effectiveness against central nervous system (CNS) symptoms, in cerebrospinal fluid. Significant reductions in heparan sulfate concentrations were observed in all patients, and positive changes in neurocognitive developments were observed in 21 of the 28 patients.63
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI
Published in Ophthalmic Genetics, 2022
Tanya Kowalski, Sarah Donoghue, Gerard de Jong, Heather G. Mack
The Mucopolysaccharidoses are a collection of clinically distinct syndromes grouped together under this nomenclature as they each result from specific genetically defined alterations in the biochemical processing of glycosaminoglycans (GAG). Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, OMIM # 253,200) is an autosomal recessive lysosomal storage disorder caused by genetic variants in the arylsulfatase B (ARSB) gene on chromosome 5q14. The arylsulfatase B enzyme is responsible for processing the residues at the ends of dermatan sulfate and chondroitin 4-sulfate by hydrolysing the C4 ester linkage in the N-acetylgalactosamine 4-sulfate residues at the non-reducing end of the GAG (1). Deficiency of ARSB enzyme activity in MPS VI patients leads to the accumulation of partially degraded GAGs dermatan sulfate and chondroitin-4 sulfate. Accumulation of these intermediate breakdown products in the lysosomes of tissues in multiple organ systems causes cellular and structural damage by a number of mechanisms including inflammatory cascades through the activation of the Toll-like receptor-4 (2).