Article
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Molecular genetics and metabolism - 1 Sept 2018
Peracha Hira, Sawamoto Kazuki, Averill Lauren, Kecskemethy Heidi, Theroux Mary, Thacker Mihir, Nagao Kyoko, Pizarro Christian, Mackenzie William, Kobayashi Hironori, Yamaguchi Seiji, Suzuki Yasuyuki, Orii Kenji, Orii Tadao, Fukao Toshiyuki, Tomatsu Shunji
Abstract excerpt
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the...
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