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. more...

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.

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