mucopolysaccharidosis type 4A

(redirected from Morquio A syndrome)

mucopolysaccharidosis type 4A

A form of mucopolysaccharidosis, an autosomal recessive lysosomal storage disease (OMIM:253000) characterised by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate.

Clinical findings
Short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal; no CNS involvement, except where skeletal changes compress anatomic structures and cause neurologic complications. Patients with the severe phenotype usually do not survive past the second or third decade of life.

Molecular pathology
Defects of GALNS, which encodes a sulphatase required for the degradation of glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate, cause Morquio A syndrome.
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In July 2014, BioMarin received USD67.5 m from Regeneron Ireland, an indirect, wholly-owned subsidiary of Regeneron Pharmaceuticals, Inc., in exchange for a voucher awarded when it received approval of Vimizim for patients with the rare disease, Mucopolysaccharidosis type IVA, also known as Morquio A syndrome.
Giugliani et al., "International guidelines for the management and treatment of Morquio a syndrome," American Journal of Medical Genetics A, vol.
M2 EQUITYBITES-November 24, 2015-BioMarin Pharmaceutical receives recommendation in England for Morquio A Syndrome patients' access to Vimizim treatment
Bubbly Ali Zaidi was born with Morquio A Syndrome, a condition so rare it affects just 40 patients in the UK and 400 throughout the world.
BioMarin expects to double its annual sales to USD1bn (EUR764.3m) following the launch of Galns, its enzyme replacement therapy for the treatment of Morquio A syndrome, a rare, inherited lysosomal storage disorder.
Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet 2008;17(6):815-824.
The plant will be occupied in a phased transition with substantial manufacturing activities being tied to results of the ongoing Phase III trial for N-acetylgalactosamine 6-sulfatase (GALNS) for the treatment of Mucopolysaccharidosis IVA (MPS IVA, also known as Morquio A Syndrome).
She suffers with metabolic disorder Morquio A Syndrome, which affects only 50 patients in the UK and 1,000 worldwide.
Young patient Sultan Ali, from Moseley, who suffers growth-stunting illness Morquio A Syndrome, has become the first child in the world to receive the new intravenous infusion enzyme treatment.