A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
Morquio A syndrome
elosulfase alfa
enzyme replacement therapy
growth
mucopolysaccharidosis type IVA
spinal decompression surgery
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
02 Feb 2020
02 Feb 2020
Historique:
received:
29
12
2019
revised:
26
01
2020
accepted:
27
01
2020
entrez:
7
2
2020
pubmed:
7
2
2020
medline:
18
11
2020
Statut:
epublish
Résumé
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 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 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.
Sections du résumé
BACKGROUND
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
PATIENT
METHODS
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
CONCLUSION
CONCLUSIONS
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.
Identifiants
pubmed: 32024277
pii: ijms21030989
doi: 10.3390/ijms21030989
pmc: PMC7037301
pii:
doi:
Substances chimiques
Chondroitinsulfatases
EC 3.1.6.-
GALNS protein, human
EC 3.1.6.4
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
We declare no conflict of interest. Any role of the funding sponsors in the choice of research project, design of the study, in the collection, analyses or interpretation of data.
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