Definition of Menkes syndrome

Menkes syndrome: A genetic disorder, also known as kinky hair syndrome, in which the hair is fragile and twisted ("kinky") and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of metabolism that markedly decreases the ability to absorb copper. It can often be diagnosed by looking at the person's hair, which appears to be both whitish and kinked when viewed under a microscope.

The syndrome is inherited as an X-linked recessive disorder. Females with the gene on one of their two X chromosomes are normal carriers and each of their sons has a 50% risk of receiving that X and having the disease. The gene for the disease is located in chromosome region Xq12-q13.3.

Menkes syndrome is characterized by early retardation in growth, the peculiar hair, and cerebral degeneration beginning within a month or two after birth and progressing rapidly to death in the first or second year of life. The hair is stubby and white. Microscopically it shows twisting, varying diameter along the length of the shaft, and often fractures of the shaft at regular intervals.

The basic error underlying the disease involves a zinc-binding protein (ZBP). Because zinc and copper metabolism are interrelated, the error involving ZBP affects copper transport and results in a deficiency of copper, which is needed by enzymes involved in making bone, nerve and other key structures.

Injections of copper histidine or copper chloride administered within the first ten days after birth have been reported to improve or even normalize the outcome for some children with Menkes syndrome. However, other children with the disease show no appreciable benefit from this therapy.

Common Misspellings: menkes syndrone