Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.
Jack R Fennessy, Kayla M D Cornett, Gabrielle A Donlevy and 3 others
PMID 39252496WHAT IT FOUND
Early high-dose riboflavin treatment, sometimes with flavin mononucleotide, coenzyme Q, L-Carnitine, or fish oil, was followed by less disability than late treatment, but decline could continue.
When hearing and vision improved, gains lasted only the first 12 months.
Key findings
01Children treated early had less disability than those treated late, but some still progressed.
02Hearing and visual acuity improved in some children during treatment, but gains were limited to the first 12 months.
03Respiratory function could decline despite treatment, and severe cases needed ventilatory support.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for SLPs
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What it does not show
The study was a retrospective case series of 11 people, so it cannot show how much treatment alone changed outcomes. Some participants also took flavin mononucleotide, coenzyme Q, L-Carnitine, and fish oil at their own discretion, so the contribution of any single supplement cannot be separated. Not all yearly data points were captured, so some results are missing. The Charcot-Marie-Tooth score had a ceiling effect for balance and did not capture proximal weakness in most individuals. Scoliosis severity and progression were not reported. Only people with SLC52A2 RTD2 were included, so the findings do not directly cover RTD3.
Declared interests
The authors report no conflicts of interest relevant to this study. The work was funded by the Cure RTD Foundation.
The easy way to misread this
Do not read early riboflavin as a cure or the sole reason for improvement. Some children also took flavin mononucleotide, coenzyme Q, L-Carnitine, and fish oil, and this small retrospective series cannot separate each component's contribution. Some children still lost walking endurance or respiratory function despite treatment.