Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect

Area of Science:

• Genetics
• Neurology
• Metabolic Disorders

Background:

• Riboflavin transporter deficiency (RTD) is a rare and severe neurometabolic disorder.
• Pathogenic variants in the SLC52A3 gene cause riboflavin transporter 3 deficiency, a specific form of RTD.

Purpose of the Study:

• To investigate the efficacy of riboflavin supplementation in siblings with genetically confirmed riboflavin transporter deficiency.
• To evaluate the potential of antenatal intervention for preventing symptomatic manifestations of RTD.

Main Methods:

• Genetic analysis identified pathogenic variants in SLC52A3 in two siblings.
• Clinical assessment and monitoring of symptoms in both siblings.
• Riboflavin supplementation therapy was administered to both siblings, with one receiving antenatal and postnatal treatment.

Main Results:

• The first sibling, diagnosed at 11 months, showed significant improvement in respiratory and developmental symptoms with riboflavin therapy.
• The second sibling, diagnosed antenatally, received in utero and postnatal riboflavin supplementation and remains asymptomatic at age two.
• Genetic confirmation of riboflavin transporter deficiency was established in both individuals.

Conclusions:

• Antenatal riboflavin supplementation is a safe and effective strategy for preventing symptomatic riboflavin transporter deficiency.
• Early and continuous riboflavin treatment can lead to favorable clinical outcomes in individuals with RTD.