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Article

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

Journal of inherited metabolic disease - 1 Jul 2020

Marco-Marín Clara, Escamilla-Honrubia Juan M, Llácer José L, Seri Marco, Panza Emanuele, Rubio Vicente

Abstract excerpt

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...

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PMID: 32017139
DOI: 10.1002/jimd.12220

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