Hyperprolinemia 2

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The ALDH4A1 gene at 1p36.13 codes for the 563 amino acid propeptide of delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial. This converts delta-1-pyrroline-5-carboxylate (P5C) to glutamate.

Mutations cause hyperprolinemia 2 (HP-2) which has the accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline causing neurologic manifestations such as seizures and mental retardation.