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Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
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Psychiatric phenotypes associated with hyperprolinemia: A systematic review.

Yasmin Namavar1,2, Denise Joanne Duineveld1, Geertje Ingena Angelique Both1

  • 1Department of Psychiatry and Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
|July 24, 2021
PubMed
Summary

Hyperprolinemia, a genetic disorder affecting proline metabolism, is linked to developmental and psychiatric conditions. This review found common phenotypes including developmental delay, intellectual disability, autism, and psychosis, but no direct biochemical correlation.

Keywords:
22q11 deletion syndromeALDH4A1PRODHhyperprolinemiamental disorders

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Area of Science:

  • Biochemistry
  • Genetics
  • Psychiatry

Background:

  • Hyperprolinemia (Types I and II) are genetic metabolic disorders stemming from impaired proline degradation.
  • A potential association between hyperprolinemia and increased risk for developmental and mental disorders has been suggested, yet detailed psychiatric phenotypes remain underexplored.

Purpose of the Study:

  • To systematically review and clarify the psychiatric phenotypes observed in patients diagnosed with hyperprolinemia.

Main Methods:

  • A systematic literature review was conducted following PRISMA guidelines.
  • 1753 studies were screened, with 35 ultimately included for analysis (20 case reports, 15 case-control/cohort studies).

Main Results:

  • A consistent psychiatric phenotype emerged, characterized by high prevalence of developmental delay, intellectual disability, autism spectrum disorders, and psychosis spectrum disorders.
  • Identified genetic causes included mutations in PRODH, ALDH4A1, and 22q11.2 deletions.
  • No correlation was found between proline levels and specific psychiatric phenotypes, suggesting multifactorial influences.

Conclusions:

  • Genomic and environmental factors likely play a significant role in the clinical outcomes of hyperprolinemia.
  • Further research is necessary to ascertain if hyperprolinemia is a direct cause of psychiatric disorders or if both conditions share an underlying mechanism.