The Cuban health authorities have expressed concern about an increase in the number of cases of rare diseases in newborns in the Guantanamo province, something they have been observing for years.
According to a report by the official media we will winthe Cuban Ministry of Public Health (MINSAP) does not have a clear idea of what is causing the problem.
According to the aforementioned newspaper, it was revealed that 19 children in the territory suffer from biotinidase deficiency, and another 11 were diagnosed with a phenylketonuria deficit, this according to the information shared at the V Provincial Workshop on Rare Pediatric Diseases that took place carried out in the children’s hospital ‘Pedro Agustín Pérez’.
These diseases are caused by inborn errors of metabolism, and can cause problems in the lives of patients.
According to Dr. Demetrio Pérez Kindelán, head of the territorial Commission for the Reassessment of High-Risk Infants, biotinidase deficiency occurs in one of every 70,000 births.
Symptoms of this condition include seizures, muscle weakness, optic nerve atrophy, skin rashes, hair loss, frequent conjunctivitis and fungal infections, and possible retardation in the patient’s mental development.
For its part, the deficiency of phenylketonuria affects one in every 100,000 newborns, and is caused by the lack of an enzyme that breaks down the amino acid phenylalanine.
The expert points out that this can lead to the accumulation of phenylalanine in the body, causing it to be transformed into another toxic substance for the brain. The disease can cause irreversible mental retardation as well as recurrent seizures in patients.
The health authorities did not reveal the dates on which these 30 cases were detected, but they ensure that all patients receive the necessary care and follow-up.
In an attempt to detect these diseases in time, there is a national program that began in 1983, and which takes a blood sample from babies on the fifth day after birth.
Taking the sample makes it possible to detect signs of these diseases, as well as others such as “congenital hypothyroidism, adrenal hyperplasia, galactosemia and cystic fibrosis.”
The Provincial Health Directorate indicated that the main cause of death in children under one year of age is low birth weight, as well as perinatal conditions and congenital malformations. In 2022, there was also an increase in maternal deaths, with four deaths during the year, while 2021 only saw one such death.
