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Tyrosinemia type I

From SNPedia

Tyrosinemia type 1 is a serious recessive condition caused by an enzyme deficiency. It is extremely rare, occurring in about 1 in 100,000 people worldwide, but in 1 in 2,000 among some French-Canadian populations. [1]

Type 1 disease is caused by mutations in the fumarylacetoacetase (FAH) gene. Carriers with a single mutated copy of the gene are not affected. Other types of tyrosinemia are caused by defects in the 4-hydroxyphenylpyruvate dioxygenase (HPD) and tyrosine aminotransferase (TAT) genes.

Some Relevant SNPs[edit]

SNPs associated with tyrosinemia type 1 include:

See List of variants reported as pathogenic for Tyrosinemia type I by Gene Reviews [2]

An apparently less severe form of tyrosinemia type 1 caused by a novel mutation in the FAH gene was reported in 2009 in a Belgian infant. [PMID 20003495]

  • 103G>A (Ala35Thr), which in GRCh38, is at position 80158081 (ch 15) but currently lacks an entry in dbSNP


[PMID 30414057OA-icon.png] The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

[PMID 28771246OA-icon.png] Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

[PMID 25681080OA-icon.png] Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

[PMID 23311542OA-icon.png] Recommendations for the management of tyrosinaemia type 1.

[PMID 17997497] Hereditary tyrosinaemia type I: from basics to progress in treatment.