¿Tiene el paciente una leucodistrofia? Importancia de la descripción clínica, la semiología y las neuroimágenes ante la sospecha diagnóstica de leucodistrofia de origen metabólico

Peña, Olga Yaneth Echeverri; Mera, Paola; Cabarcas-Castro, L.; Ardila-Gómez, Yudi Andrea; Espinosa, Eugenia; Barrera-Avellaneda, Luis Alejandro

doi:10.17533/udea.iatreia.v30n2a09

Cited by 1 publication

(1 citation statement)

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“…Moreover, the patient also had a decreased ARSA activity (11.92 nmol/h/mg vs. control 37.08 nmol/h/mg) and the molecular testing revealed two heterozygous mutations in ARSA gene: p.N352S and p.T393sS. On the other hand, Echeverri-Peña [146] reported a Colombian female patient that presented a slight decrease in ARSA activity levels and showed perinatal noxa in brain images with possible hypoxic-ischemic origin. However, metachromatic leukodistrophy was discarded, and it was not possible to establish a definite diagnosis.…”

Section: Metachromatic Leukodystrophymentioning

confidence: 89%

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Puentes-Tellez

Lerma-Barbosa

Garzón-Jaramillo

et al. 2020

Heliyon

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Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport, lysosomal biogenesis or modulators of lysosomal environment. Significant advances have been achieved in the diagnosis, management, and treatment of LSDs patients. In terms of approved therapies, these include enzyme replacement therapy (ERT), substrate reduction therapy, hematopoietic stem cell transplantation, and pharmacological chaperone therapy. In this review, we summarize the Colombian experience in LSDs thorough the evidence published. We identified 113 articles published between 1995 and 2019 that included Colombian researchers or physicians, and which were mainly focused in Mucopolysaccharidoses, Pompe disease, Gaucher disease, Fabry disease, and Tay-Sachs and Sandhoff diseases. Most of these articles focused on basic research, clinical cases, and mutation reports. Noteworthy, implementation of the enzyme assay in dried blood samples, led to a 5-fold increase in the identification of LSD patients, suggesting that these disorders still remain undiagnosed in the country. We consider that the information presented in this review will contribute to the knowledge of a broad spectrum of LSDs in Colombia and will also contribute to the development of public policies and the identification of research opportunities.

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Section: Metachromatic Leukodystrophymentioning

confidence: 89%