Proline deficiency syndrome

Evidence-based neurology checklist on proline deficiency syndrome: Causative enzyme deficiencies Pyroline-5-carboxylate synthase (P5CS or ALDH18A1) Pyroline-5-carboxylate reductase 1 (PYCR1) Pyroline-5-carboxylate reductase 2 (PYCR2) Infantile phenotype Adult-onset phenotype Deficiencies on plasma…

Causative enzyme deficiencies

  • Pyroline-5-carboxylate synthase (P5CS or ALDH18A1)
  • Pyroline-5-carboxylate reductase 1 (PYCR1)
  • Pyroline-5-carboxylate reductase 2 (PYCR2)

Infantile phenotype

Adult-onset phenotype

Deficiencies on plasma tests

Magnetic resonance imaging (MRI) brain: features

References

  1. de Koning TJ. Amino acid synthesis deficiencies. J Inherit Metab Dis 2017; 40:609-620.

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