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Psychiatric phenotypes associated with hyperprolinemia: A systematic review
- Source :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 186:289-317
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- Hyperprolinemia Type I and II are genetic metabolic disorders caused by disrupted proline degradation. It has been suggested that hyperprolinemia is associated with increased risk of developmental and mental disorders but detailed information on the psychiatric phenotype in hyperprolinemic patients is limited. Following PRISMA guidelines, we carried out a systematic review to clarify psychiatric phenotypes in patients with hyperprolinemia. We screened 1753 studies and included 35 for analysis, including 20 case reports and 15 case–control and cohort studies. From these studies, a common psychiatric phenotype is observed with a high prevalence of developmental delay, intellectual disability, autism spectrum disorders, and psychosis spectrum disorders. In most cases, a genetic cause of hyperprolinemia was known, these included mutations in the PRODH and ALDH4A1 genes and deletions of chromosome 22q11.2. No evidence for a biochemical phenotype-clinical phenotype correlation was found; that is, no association between higher proline levels and specific psychiatric phenotypes was observed. This suggests that genomic and environmental factors are likely to contribute to clinical outcomes. More studies are needed to clarify whether hyperprolinemia is a primary causal factor underlying the increased risk of developing psychiatric disorders seen in patients with hyperprolinemia, or whether hyperprolinemia and psychiatric disorders are both consequences of a shared underlying mechanism.
- Subjects :
- medicine.medical_specialty
Psychosis
Proline
Cellular and Molecular Neuroscience
22q11 Deletion Syndrome
PRODH
Intellectual Disability
Intellectual disability
Proline Oxidase
medicine
Humans
ALDH4A1
Psychiatry
Genetics (clinical)
22q11 deletion syndrome
Mechanism (biology)
business.industry
medicine.disease
Phenotype
mental disorders
Psychiatry and Mental health
Case-Control Studies
hyperprolinemia
Hyperprolinemia
Autism
business
Cohort study
Subjects
Details
- ISSN :
- 1552485X and 15524841
- Volume :
- 186
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- Accession number :
- edsair.doi.dedup.....523a61dc6945ffcc4eb823b05d55d67a