29/06/2026 10:31 - Salud
Phenylketonuria (PKU) is a rare inherited metabolic disorder that prevents the body from properly breaking down an amino acid called phenylalanine, found in proteins. This occurs due to the absence or malfunction of an enzyme called phenylalanine hydroxylase, which normally converts phenylalanine into tyrosine.
When this conversion fails, phenylalanine accumulates and becomes toxic to the central nervous system, especially during critical neurological development stages in childhood. Without timely treatment, it can cause severe and irreversible consequences.
June 28 not only commemorates the fight against this rare disease but also symbolizes the birth of a revolutionary public health tool: the newborn screening program. On this day in 1916, Dr. Robert Guthrie was born—an American bacteriologist and physician who forever changed the lives of millions worldwide.
In the 1960s, he developed the first test to detect PKU in newborns using a simple, inexpensive, and effective technique: a blood sample from the baby's heel placed on filter paper, which could identify the disease before it caused irreversible neurological damage.
| Parameter | Information |
|---|---|
| Timing | Between 36 and 72 hours after birth |
| Method | A drop of blood taken from the baby's heel |
| Test Name | Guthrie Test (newborn screening / heel prick test) |
| Legal Framework in Argentina | Law 23.413 (mandatory since 1990) |
Over time, screening programs expanded to include other conditions and became a public health standard. In Argentina, newborn screening can detect:
Phenylketonuria (PKU)
Congenital Hypothyroidism
Cystic Fibrosis
Congenital Adrenal Hyperplasia
Galactosemia
Biotinidase Deficiency
PKU has no cure, but it can be treated. When started early, treatment allows individuals to live completely normal lives. The approach is based on three pillars:
Limit natural protein intake with individually prescribed amounts
Essential amino acids without phenylalanine to supplement nutrition
Necessary for maintaining a balanced, safe diet long-term
In Argentina, approximately 700 people live with this rare disease. Law 23.413 has mandated newborn screening since 1990, enabling early intervention before symptoms appear and preventing severe, irreversible damage. This makes Argentina one of the Latin American countries with robust newborn screening programs.
A single drop of blood can change a life's destiny. Timing and metabolic control make all the difference. Newborn screening, diagnostic confirmation, and proper management are essential for preventing complications and ensuring a good quality of life throughout all stages of life.
Source: Diario Democracia | More information at Fundación Enhue
Alfredo S. Quiroga
