Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Hwu, Wuh‐Liang; Okuyama, Torayuki; But, Wai Man; Estrada, Sylvia; Gu, Xuefan; Hui, Joannie; Kosuga, Motomichi; Lin, Shuan‐Pei; Lock-Hock, Ngu; H, Shi; Tanaka, Akemi; Thong, Meow‐Keong; Wattanasirichaigoon, Duangrurdee; Wasant, Pornswan; McGill, Jim

doi:10.1016/j.ymgme.2012.07.019

Cited by 6 publications

(3 citation statements)

References 27 publications

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“…HSCT has been limited due to the high procedure-related morbidity and mortality risk and the difficulty of finding matched donors. [4] HSCT appears to stabilize or improve visual acuity, corneal opacification, and optic nerve swelling in MPS patients. It may have no effect on retinal degeneration.…”

Section: Discussionmentioning

confidence: 99%

Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux–Lamy syndrome)

Lin

Huang

Lei

et al. 2019

Taiwan J Ophthalmol

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Mucopolysaccharidoses (MPS) is a group of lysosomal storage disorders that lead to accumulation of glycosaminoglycans (GAGs) in many tissues and organs, resulting in different clinical features. In this study, we conducted the manifestation changes of refractive error, corneal clouding, and intraocular pressure in two Taiwanese MPS VI patients with enzyme replacement therapy (ERT) initiated at the age of eight. In case 1, hyperopia was noted before and after ERT. Clinical observation showed no significant improvement in corneal clouding after ERT. In case 2, hyperopia was also noted initially before ERT and unable to be measured due to severe corneal opacity. Clinical observation showed no significant improvement in corneal clouding in after ERT, and the best-corrected visual acuity worsen and keratoplasty was needed in both eyes. Case 2 also had ocular hypertension and suspect MPS VI-related. However, due to severe corneal clouding, optic disc changes were hard to examine, and visual field was unable to be tested. Although some literature shows that ERT may be effective in preventing and/or clearing corneal stromal GAGs, accumulation and the timing of treatment initiation cloud be a clinical prognosis predictor; in this experience, no significant improvement of corneal clouding was observed in patients with MPS IV after ERT. Hyperopia and glaucoma were noted, and showed no changes after ERT. Severe corneal clouding can lead to difficulties in diagnosis and monitoring of hyperopia and glaucoma.

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Section: Discussionmentioning

confidence: 99%

Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux–Lamy syndrome)

Lin

Huang

Lei

et al. 2019

Taiwan J Ophthalmol

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“…MPS VI has a worldwide distribution, and cases have been diagnosed across all continents (Costa‐Motta et al, 2014; Hwu et al, 2012; Jurecka et al, 2015; Sabir et al, 2020). Disease incidence ranges from 1 per 40,000 to 1 per 1.5 million live births.…”

Section: Introductionmentioning

confidence: 99%

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI)

Marek‐Yagel

Eliyahu

Veber

et al. 2021

American J of Med Genetics Pt A

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Maroteaux-Lamy syndrome (MPS-VI) is a rare autosomal-recessive disorder with a wide spectrum of clinical manifestations, ranging from an attenuated to a rapidly progressive disease. It is caused by variants in ARSB, which encodes the lysosomal arylsulfatase B (ARSB) enzyme, part of the degradation process of glycosaminoglycans in lysosomes. Over 220 variants have been reported so far, with a majority of missense variants. We hereby report two siblings of Bedouin origin with a diagnosis of MPS-VI. Western blots in patient fibroblasts revealed total absence of ARSB protein production. Complete sequencing of the coding region of ARSB did not identify a candidate disease-associated variant. However, deep sequencing of the noncoding region of ARSB by whole genome sequencing (WGS) revealed a c.1142+581A to G variant. The variant is located within intron 5 and fully segregated with the disease in the family. Determination of the genetic cause for these patients enabled targeted treatment by enzyme replacement therapy, along with appropriate genetic counseling and prenatal diagnosis for the family. These results highlight the advantage of WGS as a powerful tool, for improving the diagnostic rate of rare disease-causing variants, and emphasize the importance of studying deep intronic sequence variation as a cause of monogenic disorders.

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“…Patients with the severe form have clinical disease onset before 3 years of age, impaired mobility by 10 years of age, absent or delayed puberty, cervical spinal cord compression, respiratory insufficiency and surgical complications, and without treatment will die in their late teens or early 20s from respiratory failure . The clinical phenotypes of MPS VI are characterized by growth retardation, facial abnormalities including frontal bossing, depressed nasal bridge, corneal opacity, hepatosplenomegaly, heart valvular diseases and dysostosis multiplex . MPS has an overall incidence of approximately 1:50 000 births .…”

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confidence: 99%

Liver transplantation: New treatment for mucopolysaccharidosis type VI in rats

Toyama

Migita²,

Fujino

et al. 2019

Pediatrics International

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Background: Mucopolysaccharidosis (MPS) VI is a rare, autosomal recessive congenital metabolic disorder caused by deficient activity of the lysosomal metabolic enzyme, N-acetylgalactosamine 4-sulfatase. Enzyme replacement therapy (ERT) is the current treatment for MPS VI, although it involves limited compliance to the therapy and high cost. The aim of this study was to develop a new method of treatment by conducting an orthotopic liver transplantation (LTx) using an animal model of human MPS VI, and to evaluate and examine its effectiveness for treating MPS VI. Methods: LTx was carried out from normal unaffected to affected MPS VI rats (MPR), which were then killed after LTx, and tissues from the heart, spleen, and knee joint, as well as serum, collected for biological and morphologic evaluation. Results: Liver-transplanted (LTx) MPR had the same level of N-acetylgalactosamine 4-sulfatase activity in the liver and lungs as normal unaffected MPR, and the urinary secretion of mucopolysaccharides/glycosaminoglycan (GAG) in LTx MPR was significantly decreased. Furthermore, on histopathology, the spleens of LTx MPR showed elimination of vacuole cells. In the knee joints, growth plates became thinner, and on radiography the facial and cranial bones of LTx MPR were morphologically normal. Conclusions: LTx from normal to affected MPR was effective for symptoms of MPS and accumulation of GAG, suggesting that LTx could be a promising alternative approach for MPS VI.

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Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Cited by 6 publications

References 27 publications

Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux–Lamy syndrome)

Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux–Lamy syndrome)

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI)

Liver transplantation: New treatment for mucopolysaccharidosis type VI in rats

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