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

Tracy Eloise Mae L Sta Maria, Conchita Abarquez and Genelynne J Beley
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Tracy Eloise Mae L Sta Maria: Southern Philippines Medical Center, Department of Pediatrics, Philippines
Conchita Abarquez: Southern Philippines Medical Center, Department of Pediatrics, Philippines
Genelynne J Beley: Southern Philippines Medical Center, Department of Pediatrics, Philippines

Biomedical Journal of Scientific & Technical Research, 2023, vol. 48, issue 1, 39431-39441

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

Keywords: Journals on Medical Drug and Therapeutics; Journals on Emergency Medicine; Physical Medicine and Rehabilitation; Journals on Infectious Diseases Addiction Science and Clinical Pathology; Open Access Clinical and Medical Journal; Journals on Biomedical Science; List of Open Access Medical Journal; Journals on Biomedical Engineering; Open Access Medical Journal; Biomedical Science Articles; Journal of Scientific and Technical Research (search for similar items in EconPapers)
Date: 2023
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:48:y:2023:i:1:p:39431-39441

DOI: 10.26717/BJSTR.2023.48.007606

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