Homocystinuria, a possible solution of the Akhenaten's mystery.

Pharaoh Amenophis IV (Amenhotep IV), also known as Akhenaten, is the most mysterious person in Egyptian history and he still remains the object of academic argues. This revolutionary king introduced a new concept in Egyptian religion and arts. It is still unexplained if images of him and his family were just an artistic outbreak from old Egyptian canon or an excellent paleopathological study. Several pathologic conditions were proposed to explain his appearance but neither is completely acceptable. We propose a different disease that he could have suffered of homocystinuria--lack of cysthationine-synthase. Our conclusion is that in comparison with up to date most convincing theory, that he was suffering of Marfan syndrome, our theory equally well explains his physical appearance but is better in explaining affecting and unaffecting of his relatives. This is the only theory about Akhenaten's disease that could be checked in the near future.

Homocysteine: a history in progress.

This paper shows that the linkage between basic science and clinical research has characterized the field of sulfur amino acid metabolism since 1810, when Wollaston isolated cystine from a human bladder stone. The nature and consequences of this relationship are discussed.