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Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity

MedGen UID:: 1054238
•Concept ID:: CN377524
•: Finding

HPO:	HP:6000695

Definition

Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal enzyme concentration or activity
    - Abnormal tissue enzyme concentration or activity
      - Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity

Recent clinical studies

Etiology

Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species.

Villa O, Stuhr NL, Yen CA, Crimmins EM, Arpawong TE, Curran SP
Elife 2022 Apr 26;11 doi: 10.7554/eLife.74308. PMID: 35470798 Free PMC Article

Therapy

The metabolism of proline as microenvironmental stress substrate.

Phang JM, Pandhare J, Liu Y
J Nutr 2008 Oct;138(10):2008S-2015S. doi: 10.1093/jn/138.10.2008S. PMID: 18806116 Free PMC Article

Prognosis

Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species.

Villa O, Stuhr NL, Yen CA, Crimmins EM, Arpawong TE, Curran SP
Elife 2022 Apr 26;11 doi: 10.7554/eLife.74308. PMID: 35470798 Free PMC Article

Clinical prediction guides

Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species.

Villa O, Stuhr NL, Yen CA, Crimmins EM, Arpawong TE, Curran SP
Elife 2022 Apr 26;11 doi: 10.7554/eLife.74308. PMID: 35470798 Free PMC Article

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Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity
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