The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review | Zendy

Abdolreza Medghalchi | Zendy; Afagh Hassanzadeh Rad | Zendy; Setila Dalili | Zendy

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The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

Author(s) -

Abdolreza Medghalchi,

Afagh Hassanzadeh Rad,

Setila Dalili

Publication year - 2021

Publication title -

journal of pediatrics review

Language(s) - English

Resource type - Journals

eISSN - 2322-4401

pISSN - 2322-4398

DOI - 10.32598/jpr.9.2.584.1

Subject(s) - homocystinuria , cystinosis , context (archaeology) , narrative review , medicine , albinism , inborn error of metabolism , pediatrics , bioinformatics , genetics , intensive care medicine , biology , endocrinology , biochemistry , paleontology , cystine , amino acid , methionine , cysteine , enzyme

Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific Information (ISI), Web of Science, PubMed, and Google Scholar for the relevant evidence. Results: The ocular manifestations of IMDs can be distinguished in different diseases such as Albinism, Cystinosis, Homocystinuria, and Sulfite oxidize deficiency, Mannosidosis, Fucosidosis, Sialidosis, etc. Conclusions: Due to the direct toxic mechanisms of abnormal metabolites on eyes and regarding the effect of eye monitoring on the follow-up, management, and treatment, a detailed ophthalmological assessment is essential.

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