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Also known as:inborn error of vitamin metabolic processinborn vitamin metabolic process disorderrare inborn error of vitamin metabolic process
Overview
An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.
Clinical Presentation
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
No HPO annotations are available for this condition.
GeneReviews
Clinical Guidance
The phenotype and disease severity of untreated ataxia with vitamin E deficiency (AVED) vary widely. Although age of onset and disease course tend to be more uniform within a given family, clinical findings and disease severity can vary among sibs . Untreated AVED generally manifests in late childhood or the early teenage years, between ages five and 15 years; however, the range may be from age two to 37 years as reported in a series of 132 North African individuals . When vitamin E treatment is initiated in presymptomatic individuals (e.g., younger sibs of an index case), manifestations of AVED do not develop (see Management, ).
Diagnosis
Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.
GeneReviews
Diagnostic Criteria
No consensus clinical diagnostic criteria for ataxia with vitamin E deficiency (AVED) have been published.
Suggestive Findings
AVED should be suspected a proband with the following clinical and laboratory findings and family history.
Clinical features
Onset between ages five and 15 years
Treatment
Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.
No approved treatments are currently available for inborn vitamin metabolic disorder. The disease remains an area of unmet medical need.
GeneReviews
Management Guidelines
No clinical practice guidelines for ataxia with vitamin E deficiency (AVED) have been published.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs of an individual diagnosed with a hereditary ataxia, the evaluations summarized in Hereditary Ataxia Overview, Table 6, are recommended.
Prognosis
Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.
GeneReviews
Surveillance Guidelines
Targeted Therapy
For those on vitamin E therapy, the plasma vitamin E concentration should be measured at regular intervals (e.g., every 6 months), especially in children. Ideally the plasma vitamin E concentration should be maintained in the high-normal range. Some protocols call for measuring the total radical-trapping antioxidant parameter of plasma (TRAP). Although -tocopherol only contributes 5%-10% to TRAP, this parameter appears to be the best surrogate marker for clinical improvement . Discontinuation of vitamin E supplementation, even temporarily, leads to a drop in plasma vitamin E concentration within two to three days and to a prolonged drop in TRAP, even after reinitiating vitamin E supplementation .
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for inborn vitamin metabolic disorder.
132 publications have been identified in PubMed for inborn vitamin metabolic disorder. Research spans Case Report / Case Series (31%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (15%).
Research Type
Count
% of Total
Patient case studies
33
31%
Data assembled from 3 of 12 sources · Last updated Oct 4, 2026, 12:13 AM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
Friedreich ataxia (FRDA). The age of onset is similar in ataxia with vitamin E deficiency (AVED) and FRDA; however, only in AVED are plasma vitamin E concentrations low . Certain clinical signs may also help distinguish the two disorders; however, the distinction cannot be made on clinical grounds alone. FRDA is caused by biallelic pathogenic variants in FXN and is inherited in an autosomal recessive manner. Other ataxias. Because AVED typically presents with ataxia or clumsiness in late childhood, AVED should be included in the differential diagnosis of all ataxias with the same age of onset (see Hereditary Ataxia Overview). Malnutrition/ reduced vitamin E uptake. To become vitamin E deficient, healthy individuals have to consume a diet depleted in vitamin E over months.
Biomarker and diagnostic research for inborn vitamin metabolic disorder has been reported in the published literature.
Treatment of Manifestations
Targeted Therapy
In GeneReviews, a targeted therapy is one that addresses the specific underlying mechanism of disease causation (regardless of whether the therapy is significantly efficacious for one or more manifestation of the genetic condition); would otherwise not be considered without knowledge of the underlying genetic cause of the condition; or could lead to a cure. —ED The treatment of choice for AVED is lifelong high-dose oral vitamin E supplementation. With treatment, plasma vitamin E concentrations can become normal. Presymptomatic individuals. When vitamin E treatment is initiated in presymptomatic individuals (e.g., younger sibs of an index case), manifestations of AVED do not develop . No large-scale therapeutic studies have been performed to determine optimal vitamin E dosage and to evaluate outcomes. The reported vitamin E dose ranges from 800 mg to 1,500 mg (or 40 mg/kg body weight in children) [, , , , , , , ]. One of the following vitamin E preparations is used:
The chemically manufactured racemic form, all-rac--tocopherol acetate
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Hereditary Ataxia Overview, Table 8, are recommended.
The supplied market analysis estimates ... having a genetic component and a significant proportion involving pediatric onset. Neurological disorders represent an important category within the rare-disease landscape, while oncology, hematology, metabolic disorders, pulmonary diseases, and other therapeutic areas are also attracting substantial research attention. The orphan drugs industry is evolving alongside advances in genomics, molecular biology, cell therapy, and ... The supplied market analysis estimates that approximately 6,000 to 8,000 rare diseases have been identified, with around 80% having a genetic component and a significant proportion involving pediatric onset. Neurological disorders represent an important category within the rare-disease landscape, while oncology, hematology, metabolic disorders, pulmonary diseases, and other therapeutic areas are also attracting substantial research attention. The orphan drugs industry is evolving alongside advances in genomics, molecular biology, cell therapy, and precision medicine. Pharmaceutical and biotechnology companies are expanding pipelines targeting rare cancers, neurological disorders, hematological diseases, genetic conditions, and metabolic disorders. Advances in genomics, cell therapy, gene-editing technologies, and biologics are broadening the scientific basis for developing treatments for conditions that previously had limited therapeutic options. The global orphan drugs market was valued at approximately US 195 0 billion in 2023 and is projected to grow at a CAGR of 6 9 from 2024 to 2034 reaching approximately US 424 0 billion by the end of ... Press release - Transparency Market Research - Orphan Drugs Market to Reach US$424.0 Billion by 2034 Amid Rising Rare Disease Burden and R&D Investments - TMR - published on openPR.com
Four IPOs are currently scheduled for the week ahead, featuring three biotechs and a California bank. Four IPOs are currently scheduled for the week ahead, featuring three biotechs and a California bank. - Renaissance Capital Four IPOs are currently scheduled for the week ahead, featuring three biotechs and a California bank. Mega-issuer SpaceX (SPCX) will also be in focus as it reports earnings for the first time as a public company ahead of a partial lock-up release that will more than double the tradable float. Cardiovascular disease biotech Braveheart Bio (BRVE) is set to raise $300 million at a $1.4 billion market cap. Immune system-focused biotech Attovia Therapeutics (ATTO) plans to raise $200 million at a $649 million market cap. Attovia is developing biologic therapies for immune-mediated diseases using its ATTOBODY platform to create next-generation antibody therapeutics targeting validated immune pathways. Its commercial real estate lending franchise accounted for roughly 90% of its loan portfolio as of June 30, 2026. River City has also developed a niche serving California Community Choice Aggregator entities, although the resulting deposit base is fairly concentrated. Metabolic disorder biotech Vogenx (VOGX) plans to raise $75 million at a $173 million market cap.
The FDA announces a new framework to expedite treatment approvals for rare genetic diseases, allowing for a single clinical trial to cover multiple mutations of the same gene. This initiative aims to enhance access to therapies for children with rare diseases, exemplified by the successful treatment of KJ Muldoon with a customized gene-editing therapy.
