Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA

Molecular Genetics and Metabolism
Hira PerachaShunji Tomatsu

Abstract

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 cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia. The skeletal-related symptoms for MPS IVA include short stature with short neck and trunk, odontoid hypoplasia, spinal cord compression, tracheal obstruction, obstructive airway, pectus carinatum, restrictive lung, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, waddling gait, and laxity of joints. The degree of imbalance of growth in bone and other organs and tissues largely contributes to unique skeletal dysplasia and clinical severity. Diagnosis of MPS IVA needs clinical, radiographic, and laboratory testing to make a complete conclusion. To diagnose MPS IVA, total urinary GAG analysis which has been used is problematic since the values overlap with those in age-ma...Continue Reading

Citations

Feb 7, 2020·International Journal of Molecular Sciences·Akari Nakamura-UtsunomiyaSatoshi Okada
Feb 26, 2020·Diagnostics·Agnieszka Różdżyńska-ŚwiątkowskaAnna Tylki-Szymańska
Apr 26, 2019·Journal of Human Genetics·Caitlin DohertyShunji Tomatsu
Mar 24, 2020·Intractable & Rare Diseases Research·Jing ZhouLing Wang
Aug 28, 2019·International Journal of Molecular Sciences·Kazuki Sawamoto, Shunji Tomatsu
Feb 28, 2020·International Journal of Molecular Sciences·Kazuki SawamotoShunji Tomatsu
Mar 14, 2020·Therapeutic Advances in Endocrinology and Metabolism·Pauline Marzin, Valérie Cormier-Daire
Jan 5, 2021·Journal of Laboratory Physicians·Saloni GuptaGurudatta Satyarthee
Jan 1, 2021·International Journal of Molecular Sciences·Víctor J ÁlvarezMaría L Couce
Jun 25, 2020·Molecular Therapy. Methods & Clinical Development·Kazuki SawamotoShunji Tomatsu
Jun 3, 2021·American Journal of Medical Genetics. Part a·Simone Silva Dos Santos-LopesPaula Frassinetti Vasconcelos de Medeiros
Jul 3, 2021·International Journal of Molecular Sciences·José V ÁlvarezMaría L Couce
Sep 3, 2021·American Journal of Medical Genetics. Part a·Marta FrigeniHope Northrup
Oct 9, 2021·Molecular Genetics & Genomic Medicine·Hui ChenShunji Tomatsu
Nov 5, 2021·Orphanet Journal of Rare Diseases·Pilar Quijada-FraileMontserrat Morales Conejo

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