Menkes+Disease

-Alec and Cory toc = Background Information = [|Menkes Disease] is a metabolic disorder that affects [|copper] levels in the human body. Such a disorder leads to [|copper deficiency]throughout the body. deficiency caused from Menkes Disease is more commonly found in males due to the fact that Menkes Disease is an [|x-linked recessive disorder]; female can still develop the disease only if two defective [|alleles] develop.



=﻿Characteristics =

Diagnosed as an infant, Menkes Syndrome causes thin and rough hair, growth failure, and the breaking down of the nervous system. Menkes Syndrome symptoms may include the following:
 * **[|hypotonia] (weak muscle tone)**
 * **drooping facial features**
 * **mental retardation**
 * **[|seizures]**
 * **developmental delay**
 * **premature birth (rare)**
 * **subnormal body temperature**

Symptoms will appear at an early age, and are normally a result of not enough copper getting to the[| intestinal copper] and secondary deficiency in the [|mitochondrial enzymes]. In rare cases, Menkes symptoms begin later in childhood and are normally less severe. Slowed development could go on for two to three months, and developmental delay will be severe. Normally early loss of development skills will occur. In the [|gray matter] of the brain there can be extensive neurodegeneration, or the breaking down of brain acitvity. Twisted arteries can cause split inner walls which leads to blocked or ruptured arteries. Weakened bones can cause breaks and fractures.



http://www.medixl.com/2010/12/muscle-strength-and-tone.html This video shows some test you can have performed to see if your child has Menkes Syndrome. = Menkes Disease on the Molecular Level =

The cause of Menkes Disease is due to a mutation of the [|ATP7A] [|gene] which codes for the protein named [|Copper-transporting ATPase 1]. The gene is located on the x-chromosome between the specific positions of 13.2 and 13.3 on the x-chromosome shown below.



The mutation to the ATP7A gene causes the improper distribution of copper to cells throughout the human body. Due to the disorder, large amounts of copper settle in some tissues such as the [|small intestine] and [|kidneys] while a significantly low amount of copper settles in the [|brain] and other tissues of the body. A clear error in the distribution of the copper throughout the body is evident due to Menkes Disease. Such a poor distribution greatly affects the important copper-containing [|enzymes]that are crucial to the human body with the structure and function of bone, skin, blood vessels, and the nervous system. The decreased copper supply can reduce the activity of such copper-containing enzymes. = Works Cited = []