PDF | On May 1, , WERNER BUSTAMANTE E and others published Osteocondrodistrofía deformante (enfermedad de Morquio). PDF | REsuMEN La enfermedad de Morquio A o Mucopolisacaridosis IV A es un trastorno de depósito lisosomal pro-ducida por alteración en. Request PDF on ResearchGate | On Aug 1, , Juan Politei and others published Enfermedad de Morquio (mucopolisacaridosis IV-A): aspectos clínicos, .

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Prenatal Diagnosis Beck et al. Most chondrocytes were vacuolated with lysosomal distension. Enhancement of drug delivery: Reduction of storage lesions in the brain, behavioral performance recovery.

Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: GUSB activity levels were fold wild type. Combination of intracranial AAV and intravenous lentivirus vector administration produced better results in recovery of motor function and hearing impairment than each vector separately.

Enffrmedad Biophys Res Commun.

Transient gene expression; partial reduction of GAG in the brain; production of neutralizing antibodies against the vector.

International Morquio A registry: Unable to process the form. Am J Med Genet.

The recent approval of the first gene therapy products in Russia [ 51 ] and Europe [ 52 ] has brought new hopes into the gene therapy field. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

Treated animals showed that the therapeutic levels of enzymatic activity were maintained throughout the studied period without side effects associated with the therapy, and GAG storage in urine and tissues was significantly reduced. Cervical myelopathy in mucopolysaccharidosis type IV. A review of Morquio syndrome. Venn G, Mason RM. GUSB activity present in serum and tissues including brain for up to 12 years. KS is produced mainly in cartilage tissue, and consequently, the GAGs accumulate primarily in the lysosomes of cartilage cells, associated ligaments, and extracellular matrix ECM produced by these cells [ 1 – 4 ].


ERT provides limited impact on bones and joints. High enzymatic activities can be maintained for up to 8 years without side effects.

VIMIZIM® (elosulfase alfa)

Piccirilli C, Chadduck W. Curr Drug Discov Technol. An MPS IVA clinical trial has been conducted and wnfermedad shown a longer 6-min walk distance in a weekly infusion group compared with a placebo group [ 44 ]. Enzymatic activity was up to fold wild-type levels.

Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: The underlying problems associated with progressive skeletal deformity and laxity of joints will remain unsolved by the current ERT that ebfermedad native enzyme coexpressed with sulfatase-modifying factor SUMF 1 [ 4546 ].

The majority of KS is mprquio by chondrocytes, and therefore, the undegraded substrates accumulate mainly in cells and extracelluar matrix ECM of cartilage. Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.

Transcriptional silencing is associated with extensive methylation of the CMV promotor following adenoviral gene enfefmedad to muscle. Cheng Korquio, Smith A.

In the second phase, 12 weeks after a Morquio A mouse model was treated with a single intravenous administration of these AAV vectors, plasma enzymatic activity levels were restored to 19 or 8. N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi. Sections are stained with toluidine blue.



Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. Articles Cases Courses Quiz. Modelos Animales Enfermedad de Morquio A: Tracheomalacia in an adult with respiratory failure and Morquio syndrome.

The mean body mass index for males and females at morqkio over 18 years of age was Enzyme-replacement therapy in mucopolysaccharidosis I.

Therapies of mucopolysaccharidosis IVA (Morquio A syndrome)

This modified enzyme showed a markedly prolonged circulation dr over timescompared with native GUS enzyme. Opacites corneennes et troubles metaboliques dans la maladie de Morquio.

Finally, in the third phase, the enfermedax of AAV retargeting through the modification of viral capsid were exploited [ 99 – ]. Normalization of GAG was observed in most tissues, as well as an improvement of several clinical manifestations.

Contribución Colombiana al Conocimiento de la Enfermedad de Morquio A

In the 4 heterozygous patients, Tomatsu et al. Drugs attached to HA mkrquio be released in the process of the bone resorption. We need long-term secure funding to provide you the information that you need at your fingertips.

The AAV vector was modified by the insertion of multiple copies of a short acidic amino acid peptide within the viral capsid to confer affinity of the virus for hydroxyapatite HAthe major constituent of bone matrix.