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.
Mentioned in ?
References in periodicals archive ?
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.
M2 EQUITYBITES-November 24, 2015-BioMarin Pharmaceutical receives recommendation in England for Morquio A Syndrome patients' access to Vimizim treatment
James Lennertz, VP & GM BMIL and EUMEA Commercial Operations, BioMarin said Ireland is an ideal business environment, which lets us focus on what we do best targeting diseases like Morquio A syndrome that lack effective drug therapies and affect relatively few people, many of whom are children.
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.
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.
She suffers with metabolic disorder Morquio A Syndrome, which affects only 50 patients in the UK and 1,000 worldwide.
M2 PHARMA-November 24, 2015-BioMarin Pharmaceutical receives recommendation in England for Morquio A Syndrome patients' access to Vimizim treatment
United States-based BioMarin Pharmaceutical has received approval for the registration from the Australian Therapeutic Goods Administration for its Vimizim (elosulfase alfa) to treat patients with mucopolysaccharidosis type IVA, also called Morquio A syndrome, it was reported yesterday.
Morquio A syndrome is a rare, autosomal recessive lysosomal storage disease caused by a deficiency in N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
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, which replaces the enzyme his body is missing.
It received the voucher in connection with the approval of VIMIZIM, a new biological product for patients with Mucopolysaccharidosis type IVA, also known as Morquio A syndrome.