Homocystinuria is an Inherited Disease and an Inborn Error of Metabolism
Keywords:
homocistinuria, homocisteína, mutaciones, retraso mental, luxación del cristalino.Abstract
Introduction: Homocystinuria is an inborn error of metabolism, with autosomal recessive inheritance. Three types of homocystinuria have been classified. The characterization of enzymatic defects has not allowed a complete understanding of the mechanism of the clinical alterations of the disease.
Objective: To determine the genetic and metabolic aspects that characterize the types of homocystinuria, their clinical manifestations, their diagnostic method and their treatment.
Methods: A documentary review on the subject was carried out. Relevant articles and digital books were located and selected. Google Scholar was used as a search engine. Reliable and certified academic databases such as SciELO, Science, Wiley Online Library, Medigraphic, Scorpus were used.
Conclusions: Lens dislocation is the most consistent clinical finding in patients with homocystinuria. A specific cure for homocystinuria has not been discovered. The goal of treatment is to reduce homocysteine levels to delay the clinical course of the disease and prevent or reduce the severity of its complications.
Keywords: homocystinuria; homocysteine; mutations; mental retardation; lens dislocation.
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