ReviewJournal of inherited metabolic disease2017
Amino acid synthesis deficiencies.
Review in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.Journal of the American Heart Association · 2019Pooled it
- Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.JIMD reports · 2026Article
- Metabolic signatures in sciatic nerve of PMP22 transgenic rats provide insights into the pathogenesis of charcot-marie-tooth disease type 1 A.Scientific reports · 2026Article
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- Therapeutic Effects of Taurine and Histidine Supplementation in Retinal Diseases.Life (Basel, Switzerland) · 2024Review
- Metabolomic and immune alterations in long COVID patients with chronic fatigue syndrome.Frontiers in immunology · 2024Article
- 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
- Intra-Brain and Plasma Levels of L-Serine Are Associated with Cognitive Status in Patients with Chronic Kidney Disease.Kidney diseases (Basel, Switzerland) · 2023Article
- Role of amino acid metabolism in mitochondrial homeostasis.Frontiers in cell and developmental biology · 2023Review
- Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism.Development (Cambridge, England) · 2022Article
- Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran.Genomics & informatics · 2022Article
- Tumor metabolic reprogramming in lung cancer progression.Oncology letters · 2022Review
- Impact of a long-term high-fructose diet on systemic metabolic profiles of mice.FASEB bioAdvances · 2022Article
- Article
- A Novel UPLC-MS/MS Method Identifies Organ-Specific Dipeptide Profiles.International journal of molecular sciences · 2021Article
- COVID-19: A methyl-group assault?Medical hypotheses · 2021Article
- The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.Children (Basel, Switzerland) · 2021Article
- Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.Communications biology · 2021Article
- Stability of amino acids and related amines in human serum under different preprocessing and pre-storage conditions based on iTRAQBiology open · 2021Article
- L-serine synthesis via the phosphorylated pathway in humans.Cellular and molecular life sciences : CMLS · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids. This makes the biochemical diagnosis of this relatively new group of metabolic diseases challenging. Defects in the synthesis pathways of serine metabolism, glutamine, proline and, recently, asparagine have all been reported. Although these amino acid synthesis defects are in unrelated metabolic pathways, they do share many clinical features. In children the central nervous system is primarily affected, giving rise to (congenital) microcephaly, early onset seizures and varying degrees of mental disability. The brain abnormalities are accompanied by skin disorders such as cutis laxa in defects of proline synthesis, collodion-like skin and ichthyosis in serine deficiency, and necrolytic erythema in glutamine deficiency. Hypomyelination with accompanying loss of brain volume and gyration defects can be observed on brain MRI in all synthesis disorders. In adults with defects in serine or proline synthesis, spastic paraplegia and several forms of polyneuropathy with or without intellectual disability appear to be the major symptoms in these late-presenting forms of amino acid disorders. This review provides a comprehensive overview of the disorders in amino acid synthesis.
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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.