Date of Award
5-2026
Document Type
Thesis
Degree Name
Master of Science (MS)
College/School
College for Community Health
Department/Program
Nutrition and Food Studies
Thesis Sponsor/Dissertation Chair/Project Chair
Mousumi Bose
Committee Member
Adrian Kerrihard
Committee Member
Jessica Bihuniak
Committee Member
Seema Lalani
Abstract
Introduction - TANGO2 deficiency disorder (TDD) is a rare genetic disease causing a range of symptoms. Case studies have suggested that supplementation of B-vitamins reduces TDD symptoms in patients. This study aims to examine the association between B-vitamin intake and symptom impact in a cohort of patients with TDD. Methods - Twenty caregivers of individuals with TDD completed a 24-hour dietary recall and a symptom assessment survey. Dietary intake and quality from diet and supplements was analyzed using Nutrition Data System for Research (NDSR) software. Caregiver-reported symptoms and Developmental Profile (DP-4) scores were analyzed. Pearson’s r examined relationships between nutrient intake, Healthy Eating Index (HEI) scores, caregiver-reported symptoms, and DP-4 scores. Results - Participants generally met or exceeded Dietary Reference Intakes (DRIs) for most nutrients. Mean HEI score (54.4±18.2) was comparable to the U.S. average. Intake of vitamins B5 and B9 exceeded DRIs and were not correlated with diet quality or dietary intake. Higher vitamin B5 intake was associated with reduced overstimulation severity (r=-0.44, p=0.027) and improved socio-emotional scores (r=0.81, p=0.008). Higher vitamin B9 intake was associated with reduced severity of ataxia (r=-0.45, p=0.023) and exotropia (r=-0.42, p=0.033). Discussion - Higher vitamin B5 and B9 intake, primarily from supplementation, was associated with improved symptoms and DP-4 scores in patients with TDD. Conclusion - This study provides the first combined assessment of dietary intake, diet quality, and symptom associations with B-vitamin consumption in TDD. Results support current recommendations for B-vitamin supplementation and suggest that higher intake of vitamins B5 and B9 may improve clinical outcomes. These findings establish the need for larger, controlled trials to establish optimal dosing strategies and further clarify the role of B-vitamins in managing TDD.
File Format
Recommended Citation
Hsu, Zhi-Yi, "Nutrient Intake and its Relationship with Symptom Assessment in Patients with TANGO2 Deficiency Disorder" (2026). Theses, Dissertations and Culminating Projects. 1687.
https://digitalcommons.montclair.edu/etd/1687