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Metabolic

Combined malonic and methylmalonic aciduria – ACSF3

December 8, 2020

D-2-hydroxyglutaric aciduria – D2HGDH

December 8, 2020

Glutaricaciduria – GCDH

December 8, 2020

D-glyceric aciduria – GLYCTK

December 8, 2020

L-2-hydroxyglutaric aciduria – L2HGDH

December 8, 2020

Including Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease – PEX1 PEX10 PEX11B PEX12 PEX13 PEX16 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7

December 8, 2020

Canavan Disease – ASPA

December 8, 2020

Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration – TANGO2

December 8, 2020

Chanarin-Dorfman syndrome – ABHD5

December 8, 2020

Citrullinemia – ASS1 SLC25A13

December 8, 2020

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Royal Children’s Hospital
Flemington Road, Parkville, VIC 3052
P (03) 8341 6315 E info@gsnv.org.au

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