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Management of acute metabolic crisis in TANGO2 deficiency: a case report

Emel Yılmaz-Gümüş1, Nursel H Elcioglu2,3, Emine Genç1

  • 1Department of Pediatrics, Division of Pediatric Metabolic Diseases, Marmara University School of Medicine, Istanbul, Türkiye.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|June 29, 2023
PubMed
Abstract

Insights

Vitamin B-complex effectively managed acute metabolic crises in TANGO2 deficiency, a rare inborn error of metabolism. This treatment improved neurological and cardiac symptoms, preventing severe complications in a pediatric patient.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Neurology

Background:

  • TANGO2 deficiency is a rare inborn error of metabolism.
  • Clinical features include developmental delay, intellectual disability, seizures, and acute metabolic/cardiac crises.
  • Acute crises can be fatal if not managed promptly.
Keywords:
TANGO2 deficiencyarrhythmiaencephalopathyrhabdomyolysisvitamin B-complex

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