Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study.

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Riboflavin transporter deficiency (RTD) is a rare genetic disorder affecting riboflavin transport.
• Untreated RTD causes progressive neurological damage, but symptoms can mimic common diseases, leading to misdiagnosis.
• Early diagnosis and treatment with oral riboflavin (vitamin B2) are crucial to halt disease progression and prevent severe outcomes.

Purpose of the Study:

• To identify previously undiagnosed patients with possible riboflavin transporter deficiency (RTD) using datamining of electronic health records.
• To assess the prevalence of RTD in a large patient cohort within a tertiary referral hospital setting.
• To evaluate the effectiveness of datamining in detecting RTD cases that might otherwise be missed.

Main Methods:

• A text-mining tool systematically screened over 2.2 million electronic health records from January 2004 to July 2021.
• Records were searched for terms related to symptoms indicative of RTD, such as hearing loss and auditory neuropathy spectrum disorders.
• Patients with suspected RTD and no alternative diagnosis were offered genetic testing.

Main Results:

• The datamining identified 13 patients with possible RTD, all of whom were previously known to the hospital.
• Six of these patients underwent genetic testing, which yielded negative results.
• The study successfully identified all previously diagnosed RTD patients within the hospital's records.

Conclusions:

• Datamining a large patient cohort over 17 years did not reveal any new cases of riboflavin transporter deficiency (RTD).
• The findings suggest that RTD is a rare condition and the likelihood of missing this diagnosis in a tertiary referral hospital is limited.
• While not all suspected cases underwent genetic testing, the study supports a low prevalence of RTD.