Abstract
Characteristic clinical features and biochemical findings in a case of Menkes kinky hair disease were reported here in detail, who was thefirst case reported in Japanese literature.
A male infant, died at the age of 2 years 2months, had unusual kinky hair, seizures andprogressive psychomotor disturbance. Selectivetype II muscle fiber atrophy in biopsied puadriceps muscle, metaphyseal spurring and osteoporosis were observed. Markedly low copperlevels in blood, urine and hair were also found.Ceruloplasmin in blood was also low. Zinc levelsin blood and hair were high.
Relevant literatures of 24 cases of this diseaseso far reported were reviewed. Pathophysiologywith a special reference to copper metabolismwas discussed.
