Sly disease/-glucuronidase deficiency/mucopolysaccharidosis VII (MPS VII)

2005 ◽  
pp. 558-562
Keyword(s):  
Mps Vii

Quantitative Clinical Characteristics of 53 Patients with MPS VII: A Cross-Sectional Analysis

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
M. Zielonka ◽  
S. Garbade ◽  
S. Kölker ◽  
G. Hoffmann ◽  
M. Ries
Keyword(s):  
Clinical Characteristics ◽  
Cross Sectional ◽  
Cross Sectional Analysis ◽  
Mps Vii ◽  
Sectional Analysis

MPS VII - extending the classical phenotype

2021 ◽  
Vol 132 (2) ◽  
pp. S78-S79
Author(s):  
Andrew Oldham ◽  
Neil J. Oxbarrow ◽  
Peter Wolfson ◽  
Petra Jenkins ◽  
Chaitanya Gadepalli ◽  
...  
Keyword(s):  
Mps Vii

110. The role of cathepsin S in aortic disease in MPS I and MPS VII mice and dogs

2010 ◽  
Vol 99 (2) ◽  
pp. S30
Author(s):  
Katherine Ponder ◽  
Susan Wu ◽  
Jason Metcalf ◽  
Atilla Kovacs ◽  
Bob Mecham ◽  
...  
Keyword(s):  
Aortic Disease ◽  
Cathepsin S ◽  
Mps Vii ◽  
Mps I

Adenoviral vector-mediated ß-glucuronidase cDNA transfer to treat MPS VII RPE in vitro

2001 ◽  
Vol 23 (5) ◽  
pp. 357-367 ◽  
Author(s):  
Maria E. Verdugo ◽  
Virginia Scarpino ◽  
Philippe Moullier ◽  
Mark E. Haskins ◽  
Gustavo D. Aguirre ◽  
...  
Keyword(s):  
Adenoviral Vector ◽  
Mps Vii

Behavior and Therapeutic Efficacy of β-Glucuronidase–Positive Mononuclear Phagocytes in a Murine Model of Mucopolysaccharidosis Type VII

Blood ◽  
1999 ◽  
Vol 94 (6) ◽  
pp. 2142-2150 ◽  
Author(s):  
Brian J. Freeman ◽  
Marie S. Roberts ◽  
Carole A. Vogler ◽  
Andrew Nicholes ◽  
A. Alex Hofling ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Therapeutic Efficacy ◽  
Lysosomal Storage Diseases ◽  
Reticuloendothelial System ◽  
Mononuclear Phagocytes ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Mps Vii

Abstract Bone marrow transplantation (BMT) is relatively effective for the treatment of lysosomal storage diseases. To better understand the contribution of specific hematopoietic lineages to the efficacy of BMT, we transplanted β-glucuronidase–positive mononuclear phagocytes derived from either the peritoneum or from bone marrow in vitro into syngeneic recipients with mucopolysaccharidosis type VII (MPS VII). Cell surface marking studies indicate that the bone marrow-derived cells are less mature than the peritoneal macrophages. However, both cell types retain the ability to home to tissues rich in cells of the reticuloendothelial system after intravenous injection into MPS VII mice. The half-life of both types of donor macrophages is approximately 7 days, and some cells persist for at least 30 days. In several tissues, therapeutic levels of β-glucuronidase are present, and histopathologic analysis demonstrates that lysosomal storage is dramatically reduced in the liver and spleen. Macrophages intravenously injected into newborn MPS VII mice localize to the same tissues as adult mice but are also observed in the meninges and parenchyma of the brain. These data suggest that macrophages play a significant role in the therapeutic efficacy of BMT for lysosomal storage diseases and may have implications for treatments such as gene therapy.

scholarly journals Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

Diagnostics ◽  
2020 ◽  
Vol 10 (8) ◽  
pp. 554
Author(s):  
Jeremy Wolfberg ◽  
Keerthana Chintalapati ◽  
Shunji Tomatsu ◽  
Kyoko Nagao
Keyword(s):  
Hearing Loss ◽  
Current Knowledge ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Mixed Hearing Loss ◽  
Hearing Function ◽  
Common Clinical Presentation ◽  
Mps Iva ◽  
Mps Vii ◽  
Mps I

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS. This paper reviews the literature on hearing loss for each of the seven recognized subtypes of MPS. Hearing loss was found to be common in MPS I, II, III, IVA, VI, and VII, and absent from MPS IVB and MPS IX. MPS VI presents primarily with conductive hearing loss, while the other subtypes (MPS I, MPS II, MPS III, MPS IVA, and MPS VII) can present with any type of hearing loss (conductive, sensorineural, or mixed hearing loss). The sensorineural component develops as the disease progresses, but there is no consensus on the etiology of the sensorineural component. Enzyme replacement therapy (ERT) is the most common therapy utilized for MPS, but the effects of ERT on hearing function have been inconclusive. This review highlights a need for more comprehensive and multidisciplinary research on hearing function that includes behavioral testing, objective testing, and temporal bone imaging. This information would allow for better understanding of the progression and etiology of hearing loss. Owing to the prevalence of hearing loss in MPS, early diagnosis of hearing loss and annual comprehensive audiological evaluations are recommended.

scholarly journals Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

1998 ◽  
Vol 21 (6) ◽  
pp. 629-634 ◽  
Author(s):  
Y Yamada ◽  
K Kato ◽  
K Sukegawa ◽  
S Tomatsu ◽  
S Fukuda ◽  
...  
Keyword(s):  
Allogeneic Bmt ◽  
Mps Vii

scholarly journals Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation

Blood ◽  
1991 ◽  
Vol 78 (11) ◽  
pp. 3081-3092 ◽  
Author(s):  
EH Birkenmeier ◽  
JE Barker ◽  
CA Vogler ◽  
JW Kyle ◽  
WS Sly ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Life Span ◽  
Marrow Transplantation ◽  
Mesangial Cells ◽  
Radiation Doses ◽  
Mucopolysaccharidosis Type ◽  
Glomerular Mesangial Cells ◽  
Glucuronidase Activity ◽  
Mps Vii

Abstract The gusmps/gusmps mouse has no beta-glucuronidase activity and develops murine mucopolysaccharidosis type VII (MPS VII). The clinical and pathologic abnormalities are similar to those found in humans with severe MPS VII. Mutant mice are dysmorphic, dwarfed, and have a shortened life span. Pathologic findings include widespread lysosomal storage. To determine whether bone marrow transplantation (BMT) corrects these abnormalities, genetically identical mutant animals were given syngeneic bone marrow transplants using cells from +/+ mice. Initial experiments showed that levels of beta-glucuronidase activity in recipient tissues correlated with the amount of radiation administered before BMT. Two groups of mice given BMT therapy were observed for periods of 1 and 2 years, respectively. These mice were evaluated using a combination of clinical, biochemical, histochemical, and pathologic analyses. Spleen, liver, cornea, and glomerular mesangial cells showed essentially complete correction at all radiation doses. Storage was partially corrected in meninges and perivascular cells in brain, and in renal tubular epithelial cells at the higher radiation doses. Life span in BMT-treated animals was increased approximately three-fold, approaching that seen in normal mice after BMT. These results support the position that BMT has a place in the therapeutic regimen for MPS VII.

Sign in / Sign up

Export Citation Format

Share Document