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Article

Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.

Biochemical genetics - 1 Apr 2026

Yazdani Amir-Hossein, Keyfi Fatemeh, Nahid Saman, Maleki Monireh, Jalili-Nik Mohammad, Eshraghi Peyman, Mashkani Baratali, Sadeghi Asie

Abstract excerpt

Tyrosinemia type 1 is a rare disease with autosomal recessive inheritance. It occurs as a result of mutations in fumarylacetoacetate hydrolase (FAH), causing the accumulation of succinylacetone (SA) and fumarylacetoacetate metabolites, leading to severe damage to the patient's liver and kidney. The present study aimed to identify FAH mutations in patients with tyrosinemia type 1 from northeastern Iran. This...

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Identifiers

PMID: 40237876
DOI: 10.1007/s10528-025-11102-6

Genes

FAH
GC

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Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.PMID 40237876Read ↗

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