Infant diagnosed with rare genetic disorder nonketotic hyperglycinemia

A young boy named Bruno has been diagnosed with nonketotic hyperglycinemia (NKH), a rare congenital genetic disorder. The condition was identified after he struggled to breathe and remained unresponsive following his birth.

His mother, Róża, noted early signs of distress, including the infant's lack of movement in the womb and difficulty feeding after birth. Following a period of hospitalization where he required a respirator and fell into a coma, medical tests revealed abnormally high levels of glycine in his cerebrospinal fluid. This neurotransmitter acts as a brake on the nervous system, and its excess in NKH patients leads to severe neurological impairment.