It’s all about the vitamins [B]aby! OnDemand-It’s all about the vitamins [B]aby! Presentation

Video Transcription

Video Summary

The ACMG Educational Webinar focused on the critical roles of B vitamins in human health, particularly their function as enzyme cofactors essential for metabolic pathways. The session covered various B vitamin deficiencies, their clinical manifestations, diagnostic approaches, and treatments, emphasizing the importance of recognizing both inherited and acquired disorders.<br /><br />Matthew Raspberry introduced nutrition basics of B vitamins, highlighting dietary sources and populations at risk for deficiencies, such as vegans, elderly, and individuals with absorption issues. He stressed that high-dose supplementation often exceeds daily recommended intakes but is generally safe, except for vitamin B6, which can cause neuropathy at very high doses.<br /><br />Jennifer Herman presented cases of multivitamin-deficient parenteral nutrition in neonates mimicking inherited metabolic disorders, emphasizing the importance of timely vitamin replacement to resolve biochemical abnormalities. She also discussed riboflavin deficiency and sertraline-induced mitochondrial dysfunction causing reversible metabolic profiles similar to MADD.<br /><br />Anna Scott detailed treatable thiamine-related disorders, including TPK1 deficiency causing Leigh disease, and thiamine transporter defects responsive to vitamin and biotin supplementation, highlighting early intervention's critical role. Jennifer Herman further addressed vitamin B6-responsive seizures, explaining the complexity of different vitamers, associated genetic disorders (notably PDE-ALDH7A1), and combined treatments including lysine restriction to improve developmental outcomes. Early diagnosis through newborn screening was underscored as transformative.<br /><br />Curtis Coughlin discussed biotin-responsive multiple carboxylase deficiencies, including biotinidase and holocarboxylase synthetase deficiencies, their biochemical markers, diagnosis, and treatment with oral biotin. He also noted emerging disorders like carbonic anhydrase 5A deficiency which mimics biotin disorders but requires different management.<br /><br />Panelists addressed practical questions about timing of vitamin level assessments—generally advocating early treatment initiation before confirmatory testing to optimize outcomes. They also noted that vitamin supplementation can interfere with lab assays but clinical urgency justifies prompt therapy.<br /><br />Overall, the webinar emphasized understanding B vitamin disorders' biochemical and clinical complexity, advocating early recognition and tailored high-dose vitamin therapy to improve patient outcomes, especially in pediatric populations.

Keywords

ACMG Educational Webinar

B vitamins

enzyme cofactors

vitamin deficiencies

metabolic pathways

thiamine-related disorders

biotin-responsive multiple carboxylase deficiencies

vitamin B6-responsive seizures

newborn screening

high-dose vitamin therapy