The José Martí Pérez Provincial Pediatric Teaching Hospital in Sancti Spíritus expressed its condolences on Sunday following the passing of an infant who had been treated at their facility for a "life-incompatible condition." According to a statement released on their Facebook page, the infant's condition was thoroughly discussed by the hospital's medical staff and specialists from the National Center.
The diagnosed condition was Methylmalonic Aciduria, a rare metabolic disorder caused by mutations in genes responsible for the enzymes methylmalonyl-CoA mutase and methylmalonyl-CoA epimerase, among others involved in adenosylcobalamin synthesis or metabolism. This enzyme deficiency led to an accumulation of methylmalonyl-CoA, subsequently increasing the plasma and urine concentrations of methylmalonic acid, a crucial marker of the disease.
Through metabolite studies, somatic complementation, enzyme assays, and molecular testing, the severity of the disorder was confirmed. "Managing this disease is costly, requiring a strict diet devoid of branched-chain amino acids like methionine, valine, isoleucine, and threonine, along with specialized nutritional formulas and the administration of vitamins such as cobalamin and L-carnitine. Continuous nutritional monitoring is essential for managing the condition," the statement explained.
Additionally, the prognosis for Methylmalonic Aciduria is severe, particularly in cases with neonatal or early onset, carrying a high mortality rate.
Mother's Perspective
In an emotional account, the infant's mother, Ana Paloma, shared further details on Facebook regarding the case. She began by expressing gratitude to the hospital's medical team, specifically praising the dedication of the Intensive Care Unit professionals: "The clarification note from the Provincial Pediatric Hospital shows they treated us very well. We are especially grateful to Dr. Gabriel Alejandro, the nutritionist, and all the doctors and nurses in the Intensive Care Unit."
Nevertheless, the mother wanted to clarify that although her baby suffered from Methylmalonic Aciduria, she does not believe the disease is incompatible with life. She pointed out that Cuba has six similar cases, including a seven-year-old girl and a four-year-old boy, who live relatively normal lives with proper treatment.
She added that despite the high cost of treatment, most of the medications and nutrition for her child were provided by her in-laws. "I want to clarify that my baby was leading a relatively normal life until January 10, when they decided to experiment on him by administering the pentavalent vaccine without conducting the prior tests or recommended research by the provincial PAMI and nutritionist Dr. Magdalena," she explained. "Children with this condition are immunodeficient, and the child's status should have been studied and reassessed before administering this vaccine, which was never done," she added.
She also criticized the lack of response from Dr. Magdalena Guirado Espinosa, who she claims never answered urgent calls from the family regarding her son's condition. Moreover, she mentioned that the prescribed diet for her baby was "very poor" compared to other children with the same condition. As a result, the mother requested the transfer of the patient to national specialists Ulises Cabrera and Georgina, with support from Dr. Gabriel, but the transfer could not be carried out due to the child's deteriorating condition.
"I demand measures be taken against Dr. Magdalena Guirado Espinosa and her expulsion from health services. I have evidence of everything I've mentioned," the mother stated, emphasizing her desire to seek justice for her son.
Methylmalonic Aciduria in Cuba: Key Questions Answered
What is Methylmalonic Aciduria?
Methylmalonic Aciduria is a rare metabolic disorder caused by mutations affecting specific enzymes critical for processing certain proteins and fats. This leads to a buildup of harmful substances in the body.
How is Methylmalonic Aciduria diagnosed?
Diagnosis is achieved through a combination of metabolite studies, somatic complementation tests, enzyme assays, and molecular testing to confirm the presence and severity of the disorder.
What are the treatment options for Methylmalonic Aciduria?
Treatment involves a strict diet excluding certain amino acids, specialized nutritional formulas, and the administration of vitamins such as cobalamin and L-carnitine, alongside ongoing nutritional monitoring.