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A Case Report of a Female Child with Tyrosinemia Type I in Southern Philippines During the Covid-19 Pandemic

Author

Listed:
  • Tracy Eloise Mae L Sta Maria

    (Southern Philippines Medical Center, Department of Pediatrics, Philippines)

  • Conchita Abarquez

    (Southern Philippines Medical Center, Department of Pediatrics, Philippines
    Southern Philippines Medical Center, Newborn Screening Center Mindanao, Philippines)

  • Genelynne J Beley

    (Southern Philippines Medical Center, Department of Pediatrics, Philippines
    Southern Philippines Medical Center, Newborn Screening Center Mindanao, Philippines
    Davao Medical School Foundation, Inc, College of Medicine, Philippines
    Southern Philippines Medical Center, Newborn Screening Continuity Clinic, Philippines)

Abstract

Tyrosinemia type I (also called Hepatorenal Tyrosinemia) is a rare autosomal recessive metabolic disorder that presents with a severe progressive disease course leading to premature death if not treated. It is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH) which is needed in the final breakdown of tyrosine. The FAH gene is mapped in chromosome 15q25.1

Suggested Citation

  • Tracy Eloise Mae L Sta Maria & Conchita Abarquez & Genelynne J Beley, 2023. "A Case Report of a Female Child with Tyrosinemia Type I in Southern Philippines During the Covid-19 Pandemic," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 48(1), pages 39431-39441, January.
    • Handle: RePEc:abf:journl:v:48:y:2023:i:1:p:39431-39441
    DOI: 10.26717/BJSTR.2023.48.007606
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