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Metabolic

Succinic semialdehyde dehydrogenase deficiency – ALDH5A1

December 8, 2020

Lysinuric protein intolerance – SLC7A7

December 8, 2020

Fructose intolerance – ALDOB

December 8, 2020

Proteinuria – CLCN5

December 8, 2020

Hyperphosphatasia with mental retardation syndrome – PIGV PIGO PGAP2 PGAP3

December 8, 2020

Holocarboxylase synthetase deficiency – HLCS

December 8, 2020

N-terminal acetyltransferase deficiency – NAA10

December 8, 2020

Ethylmalonic encephalopathy – ETHE1

December 8, 2020

HMG-CoA lyase deficiency – HMGCL

December 8, 2020

Ornithine transcarbamylase deficiency – OTC

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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