TY - JOUR
T1 - Disease progression in Sanfilippo type B
T2 - Case series of Brazilian patients
AU - Montenegro, Yorran Hardman Araújo
AU - Kubaski, Francyne
AU - Trapp, Franciele Barbosa
AU - Riegel-Giugliani, Mariluce
AU - de Souza, Carolina Fischinger Moura
AU - Ribeiro, Erlane Marques
AU - Lourenço, Charles Marques
AU - Cardoso-Dos-santos, Augusto César
AU - Ribeiro, Márcia Gonçalves
AU - Kim, Chong Ae
AU - Castro, Matheus Augusto Araújo
AU - Embiruçu, Emília Katiane
AU - Steiner, Carlos Eduardo
AU - Vairo, Filippo Pinto E.
AU - Baldo, Guilherme
AU - Giugliani, Roberto
AU - Poswar, Fabiano de Oliveira
N1 - Publisher Copyright:
© Sociedade Brasileira de Genética.
PY - 2024
Y1 - 2024
N2 - Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four. By the end of the first decade, patients lost acquired abilities such as speech and ability to walk. Furthermore, as disease progresses, respiratory, cardiovascular and joint abnormalities were found in more than 50% of the patients, along with organomegaly. Most common cause of death was respiratory problems. The disease progression was characterized in multiple systems, and hopefully these data will help the design of appropriate clinical trials and clinical management guidelines.
AB - Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four. By the end of the first decade, patients lost acquired abilities such as speech and ability to walk. Furthermore, as disease progresses, respiratory, cardiovascular and joint abnormalities were found in more than 50% of the patients, along with organomegaly. Most common cause of death was respiratory problems. The disease progression was characterized in multiple systems, and hopefully these data will help the design of appropriate clinical trials and clinical management guidelines.
KW - Brazil
KW - MPS Brazil Network
KW - Mucopolysaccharidosis IIIB
KW - Sanfilippo syndrome
KW - heparan sulfate
KW - lysosomal storage diseases
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U2 - 10.1590/1678-4685-GMB-2023-0285
DO - 10.1590/1678-4685-GMB-2023-0285
M3 - Article
AN - SCOPUS:85186868372
SN - 1415-4757
VL - 47
JO - Genetics and Molecular Biology
JF - Genetics and Molecular Biology
IS - 1
M1 - e20230285
ER -