NUSCTX 10 Lecture Notes - Lecture 14: Menkes Disease, Afro-Textured Hair, Hypopigmentation
26 Feb 2015
School
Department
Course
Professor
Document Summary
Inherited disorders of metal metabolism and role of. Metals in nutrition: copper, essential metal used as catalytic core for oxidation-reduction reactions in many enzymes, can change oxidation states. Sources: shellfish, crustaceans (use copper in their blood, whole grains, beans, nuts, potatoes, organ meats (kidney, liver, dark leafy greens, prunes, cocoa, black pepper. Menkes disease: rare x-linked genetic disorder, results in systemic copper deficiency, due to defect in a protein, atp7a, which exports copper from intestine, symptoms: Arterial tortuosity (arteries have abnormal twists and turns) Kinky hair: david danks, australian geneticist, noticed that sheep with copper deficiency had similar symptoms, thereby discovering the cause of menkes, deficiency in copper dependent enzymes explains menkes disease. Functions of copper-dependent enzymes: electron transport chain, catecholamine formation (neurological functions, cross-linking of collagen, free radical defense, formation of melanin, cross-linking of keratin. October 16, 2014: brain abnormalities, hypothermia, neurological effects, connective tissue defects, sensitivity to oxidative stress, hypopigmentation, kinky hair, treatment:
