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Article

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2016

Ijaz Sadaqat, Zahoor Muhammad Yasir, Imran Muhammad, Afzal Sibtain, Bhinder Munir A, Ullah Ihsan, Cheema Huma Arshad, Ramzan Khushnooda, Shehzad Wasim

Abstract excerpt

BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is a rare inborn error of tyrosine catabolism with a worldwide prevalence of one out of 100,000 live births. HT1 is clinically characterized by hepatic and renal dysfunction resulting from the deficiency of fumarylacetoacetate hydrolase (FAH) enzyme, caused by recessive mutations in the FAH gene. We present here the first report on identification of FAH mutations in...

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Identifiers

PMID: 26565546
DOI: 10.1515/jpem-2015-0289

Genes

FAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.PMID 26565546Read ↗

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