Proline deficiency syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Proline deficiency syndrome. Pyroline-5-carboxylate synthase (P5CS or ALDH18A1). Fully referenced neurology checklist.
Causative enzyme deficiencies
- Pyroline-5-carboxylate synthase (P5CS or ALDH18A1)
- Pyroline-5-carboxylate reductase 1 (PYCR1)
- Pyroline-5-carboxylate reductase 2 (PYCR2)
Infantile phenotype
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Adult-onset phenotype
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Deficiencies on plasma tests
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Magnetic resonance imaging (MRI) brain: features
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