ArticleAmerican journal of medical genetics. Part A2021
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 28 citations in OpenAlex.
- Convergent human genetic evidence implicates serine biosynthesis in diabetic peripheral neuropathy.medRxiv : the preprint server for health sciences · 2026Article
- A phosphoserine phosphatase variant present in the brain of Alzheimer's disease patients favors nuclear mistargeting.The FEBS journal · 2025Article
- Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.Cellular & molecular biology letters · 2025Article
- Age-dependent small fiber neuropathy: Mechanistic insights from animal models.Experimental neurology · 2024Review
- PSAT1 enhances the efficacy of the prognosis estimation nomogram model in stage-based clear cell renal cell carcinoma.BMC cancer · 2024Article
- Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.Molecular genetics & genomic medicine · 2024Review
- Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.PLoS genetics · 2023Article
- Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.Biomolecules · 2023Article
- L-serine biosynthesis in the human central nervous system: Structure and function of phosphoserine aminotransferase.Protein science : a publication of the Protein Society · 2023Article
- Effects of insufficient serine on health and selenoprotein expression in rats and their offspring.Frontiers in nutrition · 2022Article
- Juvenile-onsetFrontiers in genetics · 2022Article
- The undiagnosed diseases program: Approach to diagnosis.Translational science of rare diseases · 2020Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult. She has novel compound heterozygous mutations in the gene PSAT1. Treatment with high dose oral L-serine completely resolved the ichthyosis. Consideration of this diagnosis is important because early treatment with L-serine repletion can halt progression of neurodegeneration and potentially improve neurological disabilities. As exome sequencing becomes more widely implemented in the diagnostic evaluation of progressive neurodegenerative phenotypes, adult neurologists and geneticists will increasingly encounter later onset manifestations of inborn errors of metabolism classically considered in infancy and early childhood.
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Registered trials
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