Tyrosinemia is a metabolic genetic disease. There are many types according to the mutated genes. Tyrosinemia type 1 is caused by the mutation of FAH gene on chromosome 15, which leads to dysfunction of fumaryl acetoacetate hydrolase.
Oculocutaneous albinism type 1 is a genetic disease that affect coloring (pigmentation) of the skin, hair, and eyes. These conditions are caused by mutations in the TYR gene on chromosome 11.
Mucopolysaccharidoses, a group of lysosomal storage diseases, are classified into 11 types according to the genes involved. Type I is the most severe one.
This interpretation of results indicating that the patient may have an inherited metabolic disease can be used as additional information when you have consultations with doctors. Please read the following information carefully.
