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ABSTRACT:
PURPOSE
TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in
2016, is characterized by neurodevelopmental delays, seizures, intermittent ataxia,
hypothyroidism and life-threatening metabolic and cardiac crises. The purpose of this
study was to define the natural history of TDD.
METHODS
Data were collected from an ongoing natural history study of TDD patients enrolled
between February 2019 – May 2022. Data were obtained through phone-based parent interviews
and medical record review.
RESULTS
Data were collected from 73 patients (56% male) from 57 unrelated families in 17 different
countries. The median age of participants at time of data collection was 9.0 years
(IQR 5.3-15.9 years, range fetal – 31 years). A total of 24 different TANGO2 alleles were observed. Patients demonstrated normal development in early infancy
with progressive delays in developmental milestones thereafter. Symptoms including
ataxia, dystonia and speech difficulties typically starting between the ages of 1-3
years. A total of 48 (66%) patients suffered metabolic crises and, of these, 29/48
(73%) developed cardiac crises. Metabolic crises were significantly decreased after
initiation of B-complex or multivitamins.
CONCLUSIONS
We provide the most comprehensive review of natural history of TDD and provide important
observational data suggesting B-complex or multivitamins may prevent metabolic crises.
Key words
ABBREVIATIONS:
ACP (acyl carnitine profile), ALT (alanine aminotransferase), AST (aspartate aminotransferase), CK (creatinine kinase), ECG (electrocardiogram), ECHO (echocardiogram), ECMO (extra corporeal membrane oxygenation), PAA (plasma amino acids), QTc (Corrected QT interval), TdP (torsade de pointes), TANGO2 (Transport and Golgi Organization Homolog 2), TDD (TANGO2 deficiency disorder), UOA (urine organic acids), VT (ventricular tachycardia)To read this article in full you will need to make a payment
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Article info
Publication history
Accepted:
November 30,
2022
Received in revised form:
November 30,
2022
Received:
July 15,
2022
Publication stage
In Press Accepted ManuscriptIdentification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
