P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency

• Ameya Walimbe,
• Emily Waskow,
• Laura Mackay,
• Charul Gijavanekar,
• Marcus Miller,
• Sarah Elsea,
• Fernando Scaglia

Affiliations

Ameya Walimbe

Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, Texas Children’s Hospital, Houston, TX

Emily Waskow

Texas Children’s Hospital, Houston, TX, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Laura Mackay

Department of Pediatrics, UT Southwestern, Dallas, TX

Charul Gijavanekar

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Marcus Miller

Indiana University School of Medicine, Indianapolis, IN

Sarah Elsea

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Fernando Scaglia

Texas Children’s Hospital, Houston, TX, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR, China