Síntomas neurológicos en la mucopolisacaridosis tipo I

Marco Casartelli; Patricia Arredondo

Vol. 3 (2017), REVIEWS

Vol. 3 (2017)

Neurological Symptoms in Mucopolysaccharidosis type I

REVIEWS

Published 2017-06-30

Marco Casartelli⁺⁻
Patricia Arredondo⁺⁻

Marco Casartelli

Hospital General Pediátrico Niños de Acosta Ñu, Asunción

Patricia Arredondo

Hospital General Pediátrico Niños de Acosta Ñu, Asunción

PDF (Spanish)

Keywords

Mucopolysaccharidosis type I
α-iduronidase
Hydrocephalus
Developmental delay
Cognitive Disability
Enzyme Replacement Therapy
Bone Marrow Transplantation

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How to Cite

1.

Neurological Symptoms in Mucopolysaccharidosis type I. Rev. parag. reumatol. [Internet]. 2017 Jun. 30 [cited 2026 Jan. 16];3(1):25-8. Available from: https://revistaant.spr.org.py/index.php/spr/article/view/50

Abstract

Mucopolysaccharidoses type I is a metabolic disease whose cause is the absence or deficiency of the enzyme α-irudinase which leads to an accumulation of GAGs in the Neurological manifestations in Muopolysaccharidosis type I are frequent and often severe, mainly in the Hurler phenotype. Their severity correlates with the genotype and treatment received; And can be as important as Hydrocephalus and Intellectual Disability, which can even become severe. Neurological manifestations in Mucopolysaccharidoses type I should be known and detected in time in order to make correctly interventions to minimize their impact.

PDF (Spanish)

References

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