Sabinas brittle hair syndrome
|
|
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.