ðɛɹˌɑːɹ ˈeɪt mjuːtˈeɪʃənz kˈɜːɹəntli ɐsˈoʊsɪˌeɪɾᵻd wɪð ˌɔːɾoʊsˈoʊməl ɹᵻsˈɛsɪv hˌɪstɪdaɪnˈiːmiə, ðæt ɪŋklˈuːd: fˈoːɹ mˈɪsɛns mjuːtˈeɪʃənz, tˈuː ɛɡzˈɑːnɪk pˈɑːlɪmˌoːɹfɪzəmz ænd tˈuː ˌɪntɹənˈɪk pˈɑːlɪmˌoːɹfɪzəmz.
There are eight mutations currently associated with autosomal recessive histidinemia, that include: four missense mutations, two exonic polymorphisms and two intronic polymorphisms.