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Other metabolic conditions

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

Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency – FLAD1

December 8, 2020

Glycogen storage disease – AGL G6PC GYS2 GBE1 LDHA PFKM SLC37A4

December 8, 2020

Chylomicron retention disease – SAR1B

December 8, 2020

Peroxisomal acyl-CoA oxidase deficiency – ACOX1

December 8, 2020

GABA-transaminase deficiency – ABAT

December 8, 2020

Menkes Disease – ATP7A

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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