Menke's disease" is a disease of
Ans. is 'b' i.e., Impaired copper transpo Menke's disease is caused due to defect in the copper transpo. There is defect in the transpo of copper present in the intestinal mucosa to the blood stream. The mucosal lining of intestine contains high level of copper bound to metallothionein protein. Rather than being transporated to bloodstream, the copper remained in the mucosa and was lost when intestinal cells were naturally soughed off. Menkes disease is caused due to defect in the "MNK" gene. The protein normally function by moving copper from the intestinal mucosal cells into the blood stream, where it is hound by proteins such as albumin and transpoed to organs and tissues. Serum copper is critical for the functioning of several enzymes Lysyl oxidase - It is impoant for the cross linking of collagen and elastin such that deficiencies lead to problems in connective tissues such as bones Cytochrome oxidase - Involved in temperature maintenance Tyrosinase - Necessary for pigmentation Clinical features of menkes disease Growth retardation Coarse hair, brittle and ivory white (result of depigmentations). The hair fibres are twiisted and broken helically (kinky hair). Seizures Cerebral and cerebellar degeneration (postmoem analysis) Hypothermia Thrombosis Poor bone development Increased tendency towards aneurysms
Impaired zinc transpo
Impaired copper transpo
Impaired magnesium transpo
Impaired molybdenum transpo