Menkes' kinky hair disease: Report of a case and distribution of sulfhydryl residues and disulfide bonds in kinky hair

Abstract

We report here a case of a male infant with Menkes' kinky hair disease. The patient, at the age of 3 months, exhibited slow growth, convulsions, hair abnormalities such as pili torti and dusty gray hair, and low levels of serum copper and ceruloplasmin. After intravenous administration of CUSO4 and administration of a copper acetate suppository, the level of serum copper and ceruloplasmin elevated to within normal limits. The fluorescence of the kinky hair cortex with disulfide bonds was less than that of the normal control. The copper content of the kinky hair was also lower than that of normal control. Accordingly, we suggest that kinky hair formation results from low activity of sulfhydryl oxidase in hair.

Menkes Disease- A Rare Neurodegenerative Disorder

“…The characteris c hair fi ndings of short, sparse, depigmented, wooly hair, which on microscopy reveal pili tor , in conjunc on with typical neurologic fi ndings, o en suggest the ini al diagnosis. It is suggested that kinky hair forma on results from low ac vity of sul ydryl oxidase, a copper enzyme, in hair 6 . Vascular, urogenital and skeletal abnormali es may be seen.…”