One child (patient 10) was diagnosed by metabolic screening because of the incidental finding of elevated liver enzymes in blood tests performed because of fatigue; one asymptomatic child (patient 12) was diagnosed following the diagnosis in an older sibling (patient 11), who underwent genetic analysis because of oculocutaneous albinism, which revealed a homozygous deletion of chromosome 5p13.3 encompassing five genes, including the AMACR gene [17]. This evidence concerns the gene AMACR and oculocutaneous albinism.