Hematopoietic cell transplantation for sialidosis type I

Ashish O. Gupta; Marc C. Patterson; Tim Wood; Julie B. Eisengart; Paul J. Orchard; Troy C. Lund

doi:10.1016/j.ymgmr.2021.100832

Hematopoietic cell transplantation for sialidosis type I

Ashish O. Gupta, Marc C. Patterson, Tim Wood, Julie B. Eisengart, Paul J. Orchard, Troy C. Lund

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

We report the clinical and laboratory follow-up data of an adolescent female with Type I Sialidosis who underwent bone marrow transplant (BMT). After BMT, plasma and urine biomarkers responded concurrently with engraftment. Neuropsychiatry data showed preservation in some domains, but she did have overall decline in motor performance. Sialidosis is a very rare lysosomal condition, and we believe this to be the first report of a case of Type I Sialidosis undergoing BMT.

Original language	English (US)
Article number	100832
Journal	Molecular Genetics and Metabolism Reports
Volume	30
DOIs	https://doi.org/10.1016/j.ymgmr.2021.100832
State	Published - Mar 2022

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Publisher Copyright:
© 2021 The Authors

Keywords

Blood and marrow transplantation
Cherry-red spot myoclonus syndrome
Hematopoietic cell transplantation
Sialidosis, type I

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10.1016/j.ymgmr.2021.100832

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title = "Hematopoietic cell transplantation for sialidosis type I",

abstract = "We report the clinical and laboratory follow-up data of an adolescent female with Type I Sialidosis who underwent bone marrow transplant (BMT). After BMT, plasma and urine biomarkers responded concurrently with engraftment. Neuropsychiatry data showed preservation in some domains, but she did have overall decline in motor performance. Sialidosis is a very rare lysosomal condition, and we believe this to be the first report of a case of Type I Sialidosis undergoing BMT.",

keywords = "Blood and marrow transplantation, Cherry-red spot myoclonus syndrome, Hematopoietic cell transplantation, Sialidosis, type I",

author = "Gupta, {Ashish O.} and Patterson, {Marc C.} and Tim Wood and Eisengart, {Julie B.} and Orchard, {Paul J.} and Lund, {Troy C.}",

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doi = "10.1016/j.ymgmr.2021.100832",

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T1 - Hematopoietic cell transplantation for sialidosis type I

AU - Gupta, Ashish O.

AU - Patterson, Marc C.

AU - Wood, Tim

AU - Eisengart, Julie B.

AU - Orchard, Paul J.

AU - Lund, Troy C.

PY - 2022/3

Y1 - 2022/3

N2 - We report the clinical and laboratory follow-up data of an adolescent female with Type I Sialidosis who underwent bone marrow transplant (BMT). After BMT, plasma and urine biomarkers responded concurrently with engraftment. Neuropsychiatry data showed preservation in some domains, but she did have overall decline in motor performance. Sialidosis is a very rare lysosomal condition, and we believe this to be the first report of a case of Type I Sialidosis undergoing BMT.

AB - We report the clinical and laboratory follow-up data of an adolescent female with Type I Sialidosis who underwent bone marrow transplant (BMT). After BMT, plasma and urine biomarkers responded concurrently with engraftment. Neuropsychiatry data showed preservation in some domains, but she did have overall decline in motor performance. Sialidosis is a very rare lysosomal condition, and we believe this to be the first report of a case of Type I Sialidosis undergoing BMT.

KW - Blood and marrow transplantation

KW - Cherry-red spot myoclonus syndrome

KW - Hematopoietic cell transplantation

KW - Sialidosis, type I

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VL - 30

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

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ER -

Hematopoietic cell transplantation for sialidosis type I

Abstract

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