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The mutation in ALDH4A1 leads to the accumulation of pyrroline-5-carboxylate (P5C) in the mitochondria, which can react with PLP to cause PLP deficiency in the brain and can also be converted to proline, resulting in elevated plasma proline levels (Fig

It is a cytosolic copper-zinc containing enzyme that converts O 2 into the less reactive H 2 O 2 (Eq

Cells were then cultured for 48 h and supernatants were collected

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