Δ1‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder

@article{MarcoMarn20201Pyrroline5carboxylateSD,
  title={$\Delta$1‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder},
  author={Clara Marco-Mar{\'i}n and Juan M Escamilla-Honrubia and Jos{\'e} Luis Ll{\'a}cer and Marco Seri and Emanuele Panza and Vicente Rubio},
  journal={Journal of Inherited Metabolic Disease},
  year={2020},
  volume={43},
  pages={657 - 670}
}
The bifunctional homooligomeric enzyme Δ1‐pyrroline‐5‐carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were associated with disease in 1998. Two siblings who presented paradoxical hyperammonemia (alleviated by protein), mental disability, short stature, cataracts, cutis laxa, and joint laxity, were found to carry biallelic ALDH18A1 mutations. They showed biochemical indications of decreased ornithine/proline synthesis, agreeing with the role of P5CS in the biosynthesis of these… 
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TLDR
The findings presented here emphasize the pleiotropic presentation of this group of conditions and suggest that multiple components of the extracellular matrix are perturbed in these disorders.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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