A last-ditch effort by a Melbourne doctor to save a dying baby has broken new ground in world medicine.
The little girl, identified as Baby Z, was born in May last year with the rare metabolic disorder known as molybdenum co-factor deficiency.
A high level of toxic sulphite in the infant's system caused the infant's brain to begin to dissolve.
She suffered seizures just 60 hours after birth and was given little hope of survival after being diagnosed with the fatal condition at the Monash Children's Hospital.
But determined doctors grasped onto a slim chance after scouring medical journals.
First biochemist Dr Rob Gianello discovered a research paper detailing an experimental drug called CPMP precursor Z, developed by German plant biologist Professor Gunther Schwarz.
He had successfully used the treatment on mice with the disease in 2004, but no human trials had taken place.
Monash research clinician Dr Alex Veldman and his team contacted Prof Schwarz in Cologne and, after being rubber stamped by the Southern Health BioEthics Panel, the little girl's treatment began.
Almost immediately, Baby Z's condition rapidly improved.
"It was really like awakening — it was just bang, and she was switched on," the Herald Sun reported Alex Veldman as saying.
The baby's level of alertness improved significantly within days.
Her head circumference, which remained static during her first six weeks, started to increase after cPMP substitution was commenced.
Baby Z was allowed to go home about four weeks into her treatment course and is now described as "delightful" by her amazed mother.
The medical long shot is already paying dividends overseas with news that a German baby is also undergoing the same treatment for an identical illness.
The four-week-old boy is also showing rapid improvement after being prescribed cPMP following the Melbourne success.
"This is a first life saving treatment for this fatal disease with global implications," Dr Veldman said.
"The team at Southern Health managed to get this therapy from bench to bedside in about two weeks, a process which normally takes several years."
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