Resumo

SAMACA MARTIN, Jhoan; AYALA FAJARDO, Adis  e  URIBE ARDILA, Alfredo. A Microspectrophotometric Method for the Determination of Reference Values of Phosphomannose Isomerase. Rev. Med [online]. 2019, vol.27, n.1, pp.29-43.  Epub 26-Nov-2022. ISSN 0121-5256.  https://doi.org/10.18359/rmed.3358.

Congenital glycosylation disorders are a set of multi-systemic genetic defects affecting protein function. About 75 diseases have been described since early studies. This study developed a microspectrophotometric method for the diagnosis of the cytosolic enzyme phosphomannose isomerase (PMI) (EC 5.3.1.8), analyzed 32 samples of individuals ranging between 0.6 and 27 years old, and established the interval and reference value of specific enzyme activity. This study will allow early and timely diagnosis of PMI deficient patients, which makes this enzyme a potential candidate for neonatal screening tests since this pathology has an easy, low-cost treatment (oral administration of mannose supplements). Clinical diagnosis of this metabolic disorder will benefit the patient and his family by improving his quality of life, as well as the Colombian healthcare system.

Palavras-chave : Phosphomannose isomerase; Ib glycosylation defects; enzymatic activity, microspectro-photometric method.

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