Tyrosinemia type I (OMIM #276700) is a genetic disease caused by pathogenic variants in the FAH<\/em> gene. If left untreated, it usually leads to acute kidney failure within the first year of life and also to renal tubular dysfunction with growth disorders, rickets, and neurological crises. Without adequate treatment, the progression of the disease is fatal within the first decade of life. If treated with nitisinone and a diet low in tyrosine is maintained, the survival rate is over 90%.<\/p>\n<\/div> Synonyms:<\/p>\n<\/div><\/div><\/div> FAH deficiency, hepatorenal tyrosinemia<\/p>\n<\/div><\/div><\/div><\/div> Gene:<\/p>\n<\/div><\/div><\/div> FAH<\/i><\/p>\n<\/div><\/div><\/div><\/div> Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div> FAH (fumarylacetoacetase)<\/p>\n<\/div><\/div><\/div><\/div> Funktion:<\/p>\n<\/div><\/div><\/div> FAH catalyzes the final degradation step of the amino acid tyrosine. FAH deficiency leads to<\/p>\n Pattern of inheritance:<\/p>\n<\/div><\/div><\/div> Autosomal recessive<\/p>\n<\/div><\/div><\/div><\/div> Prevalence:<\/p>\n<\/div><\/div><\/div> An estimated 1:100.000-1:120.000 Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div> None known<\/p>\n<\/div><\/div><\/div><\/div> Penetrance:<\/p>\n<\/div><\/div><\/div> Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>\n
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\nConsiderably higher in Scandinavia (1:75.000) and Finland (1:60.000) and also in Quebec, Canada (1:16.000)
\nThe frequency of carriers in the US is around 1:150-1:100.<\/p>\n<\/div><\/div><\/div><\/div>