TY - JOUR
T1 - Lysosomal diseases
T2 - Overview on current diagnosis and treatment
AU - Poswar, Fabianodeoliveira
AU - Vairo, Filippo
AU - Burin, Maira
AU - Michelin-Tirelli, Kristiane
AU - Brusius-Facchin, Anacarolina
AU - Kubaski, Francyne
AU - Desouza, Carolinafischingermoura
AU - Baldo, Guilherme
AU - Giugliani, Roberto
N1 - Funding Information:
The authors acknowledge the financial support of CAPES, CNPq, FAPERGS, and FIPE-HCPA. Also, we want to acknowledge all the personnel who have been collaborating for the past 35 years to build and grow the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre.
Funding Information:
The authors acknowledge the financial support of CAPES, CNPq, FAPERGS, and FIPE-HCPA. Also, we want to acknowledge all the personnel who have been collaborating for the past 35 years to build and grow the Medical Genetics Service of the Hospital de Cl?nicas de Porto Alegre.
Publisher Copyright:
© 2019, Sociedade Brasileira de Genética.
PY - 2019
Y1 - 2019
N2 - Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane- associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.
AB - Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane- associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.
KW - Enzyme replacement therapy
KW - Gene therapy
KW - Hematopoietic stem cell transplantation
KW - Lysosomal storage diseases
KW - Neonatal screening
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U2 - 10.1590/1678-4685-gmb-2018-0159
DO - 10.1590/1678-4685-gmb-2018-0159
M3 - Article
AN - SCOPUS:85069821947
SN - 1415-4757
VL - 42
SP - 165
EP - 177
JO - Genetics and Molecular Biology
JF - Genetics and Molecular Biology
IS - 1
ER -