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Intellectual functioning in alpha‐mannosidosis
Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1. Patients have distinct physical and developmental features, but only limited information regarding standardized cognitive functioning of patients has b...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850974/ https://www.ncbi.nlm.nih.gov/pubmed/31741826 http://dx.doi.org/10.1002/jmd2.12073 |
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author | Cathey, Sara S. Sarasua, Sara M. Simensen, Richard Pietris, Katie Kimbrell, Gordon Sillence, David Wilson, Callum Horowitz, Lucia |
author_facet | Cathey, Sara S. Sarasua, Sara M. Simensen, Richard Pietris, Katie Kimbrell, Gordon Sillence, David Wilson, Callum Horowitz, Lucia |
author_sort | Cathey, Sara S. |
collection | PubMed |
description | Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1. Patients have distinct physical and developmental features, but only limited information regarding standardized cognitive functioning of patients has been published. Here we contribute intellectual ability scores (IQ) on 12 patients with alpha‐mannosidosis (ages 8‐59 years, 10 males, 2 females). In addition, a pooled analysis was performed with data collected from this investigation and 31 cases obtained from the literature, allowing a comprehensive analysis of intellectual functioning in this rare disease. The initial and pooled analyses show that patients with alpha‐mannosidosis have variable degrees of intellectual disability but show decline in IQ with age, particularly during the first decade of life. Patients treated with hematopoietic stem cell transplantation tend to show stabilized cognitive abilities. |
format | Online Article Text |
id | pubmed-6850974 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-68509742019-11-18 Intellectual functioning in alpha‐mannosidosis Cathey, Sara S. Sarasua, Sara M. Simensen, Richard Pietris, Katie Kimbrell, Gordon Sillence, David Wilson, Callum Horowitz, Lucia JIMD Rep Research Reports Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1. Patients have distinct physical and developmental features, but only limited information regarding standardized cognitive functioning of patients has been published. Here we contribute intellectual ability scores (IQ) on 12 patients with alpha‐mannosidosis (ages 8‐59 years, 10 males, 2 females). In addition, a pooled analysis was performed with data collected from this investigation and 31 cases obtained from the literature, allowing a comprehensive analysis of intellectual functioning in this rare disease. The initial and pooled analyses show that patients with alpha‐mannosidosis have variable degrees of intellectual disability but show decline in IQ with age, particularly during the first decade of life. Patients treated with hematopoietic stem cell transplantation tend to show stabilized cognitive abilities. John Wiley & Sons, Inc. 2019-09-21 /pmc/articles/PMC6850974/ /pubmed/31741826 http://dx.doi.org/10.1002/jmd2.12073 Text en © 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Reports Cathey, Sara S. Sarasua, Sara M. Simensen, Richard Pietris, Katie Kimbrell, Gordon Sillence, David Wilson, Callum Horowitz, Lucia Intellectual functioning in alpha‐mannosidosis |
title | Intellectual functioning in alpha‐mannosidosis |
title_full | Intellectual functioning in alpha‐mannosidosis |
title_fullStr | Intellectual functioning in alpha‐mannosidosis |
title_full_unstemmed | Intellectual functioning in alpha‐mannosidosis |
title_short | Intellectual functioning in alpha‐mannosidosis |
title_sort | intellectual functioning in alpha‐mannosidosis |
topic | Research Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850974/ https://www.ncbi.nlm.nih.gov/pubmed/31741826 http://dx.doi.org/10.1002/jmd2.12073 |
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