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Abstract

Purpose:

To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis.

Methods:

Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to collect data on the patient’s clinical journey.

Results:

The average diagnostic delay was 27.6 months. Neurologists were the most commonly visited clinician (90%). Common symptoms during the first year of the patient’s clinical journey included abnormal gait and/or ataxia (70%), nystagmus (50%), and upper body muscle weakness (40%). Prior to diagnosis, optic atrophy, sleep apnea, breath-holding spells, and dysphagia were commonly observed. Hearing loss was only reported in 40% of subjects prior to diagnosis. Riboflavin responsive megaloblastic anemia is reported for the first time. Mitochondrial disease was the most common suspected diagnosis (30%).

Conclusion:

Despite clinical variability, common early symptoms of riboflavin transporter deficiency type 2 exist that can better allow clinicians to more rapidly identify riboflavin transporter deficiency type 2.

Keywords

riboflavin transporter deficiency Brown-Vialetto-van Laere syndrome genetic testing

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The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

Abstract

Purpose:

Methods:

Results:

Conclusion:

Keywords

Get full access to this article

References

Supplementary Material