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Article

Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.

Annals of clinical and laboratory science - 1 Jan 2014

Choi Hyun-Jung, Bang Hae In, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Song Junghan, Shin Mee-Ran, Lee Yong-Wha, Lee Dong Hwan, Park Hyung-Doo

Abstract excerpt

BACKGROUND: Hereditary tyrosinemia type I (HT I) is a severe inborn metabolic disorder affecting the tyrosine degradation pathway. Most untreated patients die within the first two years of life. HT I results from fumarylacetoacetate hydrolase (FAH) deficiency caused by mutations in the FAH gene. The diagnosis of HT I is confirmed by measuring FAH enzyme activity in cultured fibroblasts or liver tissue and/or...

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Identifiers

PMID: 25117105

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.

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Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.PMID 25117105Read ↗

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The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).Semantic proximity Read ↗

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.Semantic proximity Read ↗

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