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Case Report

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

1
Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima 7348511, Japan
2
Department of Orthopeadic Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 7348551, Japan
3
Department of Diagnostic Radiology, Hiroshima University Hospital, Hiroshima 7348551, Japan
4
Department of Diagnostic Radiology, Hiroshima Citizen’s Hospital, Hiroshima 7308518, Japan
5
Department of Otolaryngology, Hiroshima University Hospital, Hiroshima 7348551, Japan
6
Division of Neonatal Screening, Research Institute, National Center for Child Health and Development, Tokyo 1578535, Japan
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(3), 989; https://doi.org/10.3390/ijms21030989
Received: 29 December 2019 / Revised: 26 January 2020 / Accepted: 27 January 2020 / Published: 2 February 2020
(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management)
Background: Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene. This disorder results in marked abnormalities in bones and connective tissues, and affects multiple organs. Here, we describe the clinical course of a Japanese boy with MPS IVA who began enzyme replacement therapy (ERT) at the age of 24 months. Patient: the patient presented for kyphosis treatment at 22 months of age. An X-ray examination revealed dysostosis multiplex. Uronic acids were elevated in the urine and the keratan sulfate (KS) fraction was predominant. The leukocyte GalNac6S enzyme activity was extremely low. The patient exhibited the c.463G > A (p.Gly155Arg) mutation in GALNS. Based on these findings, his disease was diagnosed as classical (severe) Morquio A syndrome. An elosulfase alfa infusion was initiated at the age of 24 months. The patient’s body height improved from −2.5 standard deviation (SD) to −2 SD and his physical activity increased during the first 9 months on ERT. However, he gradually developed paralysis in the lower legs with declining growth velocity, which required cervical decompression surgery in the second year of the ERT. The mild mitral regurgitation, serous otitis media, and mild hearing loss did not progress during treatment. Conclusion: early initiation of the elosulfase alfa to our patient showed good effects on the visceral system and muscle strength, while its effect on bones appeared limited. Careful observation is necessary to ensure timely surgical intervention for skeletal disorders associated with neurological symptoms. Centralized and multidisciplinary management is essential to improve the prognosis of pediatric patients with MPS IVA. View Full-Text
Keywords: Morquio A syndrome; mucopolysaccharidosis type IVA; elosulfase alfa; enzyme replacement therapy; growth; spinal decompression surgery Morquio A syndrome; mucopolysaccharidosis type IVA; elosulfase alfa; enzyme replacement therapy; growth; spinal decompression surgery
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MDPI and ACS Style

Nakamura-Utsunomiya, A.; Nakamae, T.; Kagawa, R.; Karakawa, S.; Sakata, S.; Sakura, F.; Tani, C.; Matsubara, Y.; Ishino, T.; Tajima, G.; Okada, S. A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months. Int. J. Mol. Sci. 2020, 21, 989. https://doi.org/10.3390/ijms21030989

AMA Style

Nakamura-Utsunomiya A, Nakamae T, Kagawa R, Karakawa S, Sakata S, Sakura F, Tani C, Matsubara Y, Ishino T, Tajima G, Okada S. A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months. International Journal of Molecular Sciences. 2020; 21(3):989. https://doi.org/10.3390/ijms21030989

Chicago/Turabian Style

Nakamura-Utsunomiya, Akari, Toshio Nakamae, Reiko Kagawa, Shuhei Karakawa, Sonoko Sakata, Fumiaki Sakura, Chihiro Tani, Yoshiko Matsubara, Takashi Ishino, Go Tajima, and Satoshi Okada. 2020. "A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months" International Journal of Molecular Sciences 21, no. 3: 989. https://doi.org/10.3390/ijms21030989

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