ArticleOrphanet journal of rare diseases2015
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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Who cites it
18 citing papers in PubMed, 30 citations in OpenAlex.
- The Endocannabinoid System in Neuropsychiatric Disorders: Mechanisms, Dysregulation and Therapeutic Potential.Biomedicines · 2026Review
- Insights into X-Linked Susceptibility to Parkinson's Disease in the South African Population.medRxiv : the preprint server for health sciences · 2025Article
- Cannabinoids: Role in Neurological Diseases and Psychiatric Disorders.International journal of molecular sciences · 2024Review
- Missing data in multi-omics integration: Recent advances through artificial intelligence.Frontiers in artificial intelligence · 2023Review
- Proteomics in Inherited Metabolic Disorders.International journal of molecular sciences · 2022Review
- Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia.European journal of human genetics : EJHG · 2022Article
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- (Wh)olistic (E)ndocannabinoidome-Microbiome-Axis Modulation through (N)utrition (WHEN) to Curb Obesity and Related Disorders.Lipids in health and disease · 2022Review
- Pan-phylumFrontiers in endocrinology · 2022Article
- Lethal variants in humans: lessons learned from a large molecular autopsy cohort.Genome medicine · 2021Article
- The rise and fall of anandamide: processes that control synthesis, degradation, and storage.Molecular and cellular biochemistry · 2021Review
- Comprehensive Transcriptomic Analysis of Critical RNA Regulation Associated With Metabolism and Prognosis in Clear Cell Renal Carcinoma.Frontiers in cell and developmental biology · 2021Article
- Expression of endocannabinoid system components in human airway epithelial cells: impact of sex and chronic respiratory disease status.ERJ open research · 2020Article
- Cannabinoids in the Pathophysiology of Skin Inflammation.Molecules (Basel, Switzerland) · 2020Review
- Lipid-metabolizing serine hydrolases in the mammalian central nervous system: endocannabinoids and beyond.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2019Review
- Cannabinoid Signaling in the Skin: Therapeutic Potential of the "C(ut)annabinoid" System.Molecules (Basel, Switzerland) · 2019Review
- Multiomics tools for the diagnosis and treatment of rare neurological disease.Journal of inherited metabolic disease · 2018Review
- Article
Corrections and comments
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Authors and funding
19 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundFatty acid amide hydrolase 2 (FAAH2) is a hydrolase that mediates the degradation of endocannabinoids in man. Alterations in the endocannabinoid system are associated with a wide variety of neurologic and psychiatric conditions, but the phenotype and biochemical characterization of patients with genetic defects of FAAH2 activity have not previously been described. We report a male with autistic features with an onset before the age of 2 years who subsequently developed additional features including anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities but was otherwise cognitively intact as an adult. METHODS AND
resultsWhole exome sequencing identified a rare missense mutation in FAAH2, hg19: g.57475100G > T (c.1372G > T) resulting in an amino acid change (p.Ala458Ser), which was Sanger confirmed as maternally inherited and absent in his healthy brother. Alterations in lipid metabolism with abnormalities of the whole blood acyl carnitine profile were found. Biochemical and molecular modeling studies confirmed that the p.Ala458Ser mutation results in partial inactivation of FAAH2. Studies in patient derived fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
conclusionsWe propose that genetic alterations in FAAH2 activity contribute to neurologic and psychiatric disorders in humans.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.