ReviewFrontiers in neuroscience2021
Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.
Review in Frontiers in neuroscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.Journal of inherited metabolic disease · 2025Pooled it
- An integrative multi-omics approach identifies microbiome alterations linked to pathological and behavioral features in autism spectrum disorder.Cell reports. Medicine · 2026Article
- Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.Frontiers in psychiatry · 2026Article
- Amino acid profiles and clinical phenotypes in young children with autism spectrum disorder.Frontiers in neuroscience · 2026Article
- Does early screentime exposure or duration affect M-CHAT-R autism screening tool score?BMC pediatrics · 2025Observational
- Development of Cell-Permeable Adenylosuccinate Lyase Inhibitor.Methods and protocols · 2025Article
- Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study.Molecular syndromology · 2025Article
- Amino Acid Patterns in Children with Autistic Spectrum Disorder: A Preliminary Biochemical Evaluation.Nutrients · 2025Article
- Intranasal delivery of iron chelators and management of central nervous system disease.Frontiers in pharmacology · 2025Review
- Autism spectrum disorder and inherited metabolic diseases: are there any common features?Pediatric endocrinology, diabetes, and metabolism · 2025Review
- A mechanism of global gene expression regulation is disrupted by multiple disease states and drug treatments.PloS one · 2025Article
- RFW captures species-level metagenomic functions by integrating genome annotation information.Cell reports methods · 2024Article
- Drug Treatments for Neurodevelopmental Disorders: Targeting Signaling Pathways and Homeostasis.Current neurology and neuroscience reports · 2024Review
- Adult Neuropsychiatric Manifestation of Hartnup Disease With a NovelNeurology. Genetics · 2024Article
- Does Bisphenol A (BPA) Exposure Cause Human Diseases?Biomedicines · 2024Review
- Asymptomatic pediatric presentation of S-adenosylhomocysteine hydrolase deficiency.JIMD reports · 2024Article
- Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.Saudi medical journal · 2024Article
- Metabolomic changes in children with autism.World journal of clinical pediatrics · 2024Article
- Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.Molecular genetics and metabolism · 2024Article
- Metabolic dynamics in astrocytes and microglia during post-natal development and their implications for autism spectrum disorders.Frontiers in cellular neuroscience · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase deficiency, branched-chain α-keto acid dehydrogenase kinase deficiency, urea cycle disorders (UCD), Hartnup disease], organic acidurias (propionic aciduria, L-2 hydroxyglutaric aciduria), cholesterol biosynthesis defects (Smith-Lemli-Opitz syndrome), mitochondrial disorders (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes-MELAS syndrome), neurotransmitter disorders (succinic semialdehyde dehydrogenase deficiency), disorders of purine metabolism [adenylosuccinate lyase (ADSL) deficiency, Lesch-Nyhan syndrome], cerebral creatine deficiency syndromes (CCDSs), disorders of folate transport and metabolism (cerebral folate deficiency, methylenetetrahydrofolate reductase deficiency), lysosomal storage disorders [Sanfilippo syndrome, neuronal ceroid lipofuscinoses (NCL), Niemann-Pick disease type C], cerebrotendinous xanthomatosis (CTX), disorders of copper metabolism (Wilson disease), disorders of haem biosynthesis [acute intermittent porphyria (AIP)] and brain iron accumulation diseases. In this review, we briefly describe etiology, clinical presentation, and therapeutic principles, if they exist, for these conditions. Additionally, we suggest the primary and elective laboratory work-up for their successful early diagnosis.
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Registered trials
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