Sabinas brittle hair syndrome

From Wikipedia, the free encyclopedia

Sabinas brittle hair syndrome, also called brittle hair-mental deficit syndrome is a hereditary disease. Symptoms are brittle hair, mild mental retardation and nail dysplasia. The syndrome was first observed in Sabinas, a small community in northern Mexico.

The principal biochemical features of the illness are reduced hair cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine.

The syndrome is familial with parental consanguinity and is transmitted as an autosomal recessive trait.

[edit] External links

• http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome078.html