ArticleOrphanet journal of rare diseases2013
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
26 citing papers in PubMed, 181 citations in OpenAlex.
- Alpha-methylacyl-CoA racemase (AMACR) deficiency: report on novel patient and literature review.Journal of applied genetics · 2026Article
- Alpha-methylacyl-CoA racemase (AMACR) deficiency: report on novel patient and literature review.Journal of applied genetics · 2026Article
- Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects.Journal of inherited metabolic disease · 2025Article
- Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025Review
- α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.Movement disorders clinical practice · 2024Article
- Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.Orphanet journal of rare diseases · 2024Article
- Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.JIMD reports · 2024Article
- Alpha-methyl acetyl-coA racemase deficiency. Magnetic resonance imaging findings of three patients with encephalopathy, epilepsy, and stroke-like episodes.The neuroradiology journal · 2024Article
- Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation.Cureus · 2023Article
- Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.Frontiers in neurology · 2023Review
- Late onset AMACR deficiency with metabolic stroke-like episodes and seizures.BMJ case reports · 2022Article
- Peroxisomes of the Brain: Distribution, Functions, and Associated Diseases.Neurotoxicity research · 2021Review
- Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity.International journal of molecular sciences · 2021Review
- Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.Molecular vision · 2021Article
- Current Knowledge on the Function of α-Methyl Acyl-CoA Racemase in Human Diseases.Frontiers in molecular biosciences · 2020Review
- PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.Cerebellum (London, England) · 2017Article
- GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.PloS one · 2017Article
- NovelAnnals of clinical and translational neurology · 2016Article
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
- Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Molecular genetics and metabolism · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCorrect diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two siblings with a complex, adult-onset phenotype; including peripheral neuropathy, epilepsy, relapsing encephalopathy, bilateral thalamic lesions, type 2 diabetes mellitus, cataract, pigmentary retinopathy and tremor.
methodsWe applied clinical and genealogical investigations, homozygosity mapping and exome sequencing to establish the diagnosis and MRI to characterize the cerebral lesions.
resultsA recessive genetic defect was suspected in two siblings of healthy, but consanguineous parents. Homozygosity mapping revealed three shared homozygous regions and exome sequencing, revealed a novel homozygous c.367 G>A [p.Asp123Asn] mutation in the α-methylacyl-coA racemase (AMACR) gene in both patients. The genetic diagnosis of α-methylacyl-coA racemase deficiency was confirmed by demonstrating markedly increased pristanic acid levels in blood (169 μmol/L, normal <1.5 μmol/L). MRI studies showed characteristic degeneration of cerebellar afferents and efferents, including the dentatothalamic tract and thalamic lesions in both patients.
conclusionsMetabolic diseases presenting late are diagnostically challenging. We show that appropriately applied, homozygosity mapping and exome sequencing can be decisive for establishing diagnoses such as late onset α-methylacyl-coA racemase deficiency, an autosomal recessive peroxisomal disorder with accumulation of pristanic acid. Our study also highlights radiological features that may assist in diagnosis. Early diagnosis is important as patients with this disorder may benefit from restricted dietary phytanic and pristanic acid intake.
Indexed as
Identifiers
What OpenQuestion holds
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.