Objective: To examine indications for the early diagnosis of Menkes disease (MD).
Methods: We compared clinical examination results of 3 neonate males with family histories of MD who were at risk of being affected (1 infant was affected and 2 were unaffected).
Results: Kinky hair, a characteristic shown by MD patients, was observed just after birth in the affected infant; however, this characteristic was extremely mild and easy to miss. In the first month after birth, serum copper level declined over time in the affected infant,while it increased in the unaffected infants. Urine homovanillic acid/vanillylmandelic acid (HVA/VMA) ratio, which is typically high in MD patients, was observed to be 4.9-8.0 (cut-off, 4.0) in the affected infant. In the unaffected infants, the urine HVA/MVA ratio showed a high value of 11.0 during catecholamine administration, but this decreased to below the cut-off value when catecholamine was not administered.
Conclusions: Variations in the serum copper level and urine HVA/VMA ratio over time were considered as useful indicators for the early diagnosis of MD.