The Courier-Mail

Aussie bub helps cure brain killer


A WORLD-FIRST cure for a rare and fa­tal brain dis­ease is now sav­ing the lives of new­borns around the world thanks in part to Aus­tralian doc­tors.

The brain of “Baby Z” started to dis­in­te­grate soon af­ter her 2008 birth, with an en­zyme de­fi­ciency caus­ing a toxic buildup of sul­phite in her body.

No child had ever sur­vived the meta­bolic dis­or­der Molyb­de­num cofactor de­fi­ciency (MoCD), which af­fects one in about 150,000 ba­bies and can cause a painful death in the first few months of life.

But Monash Health neona­tol­o­gist Alex Veld­man and the par­ents, who can­not be named, found a com­pound was be­ing tested on an­i­mals in Ger­many.

Af­ter gain­ing ap­proval from the Mel­bourne hos­pi­tal’s ethics com­mit­tee and the Fam­ily Court for its use in hu­mans, Baby Z re­ceived the drug cPMP in her first month. Her sul­phite lev­els nor­malised and she is now aged seven; how­ever, she suf­fers se­vere dis­abil­i­ties.

A study pub­lished to­day in The Lancet shows a daily life­long in­fu­sion is cu­ra­tive in the type A vari­ant of MoCD.

Monash Univer­sity re­searcher Flora Wong said while Baby Z was suf­fer­ing on­go­ing health is­sues, she helped save other chil­dren. “I think of her as the hero­ine,” she said.

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