Menke's Neuropathy



Inability to transport copper within cells results in a series of enzymes failing - enzymes which capture copper within their own complex structures to aid in carrying out certain chemical reactions. These deficient actions result in hair that is underpigmented and kinky. The very fine and tight strawberry blonde hair - especially from parents of dissimilar coloration - is characteristic.

But mitochondria go lacking as well, with decreased oxidative energy output. Defective dopamine metabolism also occurs with neuro transmission sequellae which look like neuropathy - decreased sensory acuity, imbalance, poorer control of the fine movements of the hands and legs, altered reflexes etc. The neurons may show enlargement on biopsy and be referred to as giant neuronal changes.