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2021, Number 4

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Correo Científico Médico 2021; 25 (4)

Clinical and epidemiological characterization of p henylketonuria in Holgu í n province, Cuba

Batista JK, Tamayo CVJ, González AAM, Santana HEE

Language: Spanish
References: 24
Page:
PDF size: 460.29 Kb.


ABSTRACT

Introduction: Phenylketonuria is an in born error of metabolism, characterized by depigmentation and neurological alterations.
Objective: To characterize this disease from the genetic and epidemiological point of view.
Method: A cross sectional descriptive study was carried out and th e universe consisted of 485 634 live births in Holgu í n from January 1965 to December 2014; stage that comprise s from the birth of the oldest patient to the youngest The sample was compos ed by 14 patients who were diagnosed with c lassic p henylketonuria by neonatal screening using Guthrie's microbiological inhibition methods, the ultra microanalytical method, as well as cases diagnosed outside of neonatal screenings by quantification of phenylalanine in blood by fluorimetry at the Provincial Medical Genetic Center o f Holguí n . Information was collected through interviews and medical records.
Results: It was found that 64.3% of phenylketonuric patients in the province are adults who were born before the establishment of the neonatal screening program in these cases the cognitive disability was present in 35.7%, and the 78.6% did not present consanguinity, with a gene frequency of 5.36 x 10 3.
Conclusions: Most of the phenylketonuric patients are adults with intellectual disability caused by the disease, who we re born before the program. The p atients diagnosed by neonatal screening remain compensated, with good psychomotor development and normal intellectual coefficient for their ages. The gene and heterozygous frequency is high in this locality. Holguí n provinc e show s the highest prevalence in Cuba, with one patient being diagnosed every three years.


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