Menkes disease | low concentration of copper

What is Menkes Disease

The disease in which observance of copper is disturbed. In this disease, the body produced a very low concentration of copper. Thus, deficiency of copper causes a disease called Menkes Disease.

Background of Menkes Disease

MD is a caliper disease of hair, It is her Sited disease. which is caused due to improper transport of copper which leads to loss of function of the nervous system. Menkes Disease is first described in 1962.

The Australian caliper hair sheep were first seen in areas with copper_Deficient soil in 1973. He diagnosed improper levels of copper and ceruloplasmin also seen in those patients. A Menkes Disease girl and Translocation (exchange of segments of non-homologous chromosomes) of X_autosomes were proposed in 1993.

Menkes Disease (MNK) Syndrome:

It is a recessive disorder caused due to mutations in genes that codes the copper transport protein ATP7A, this mutation caused the deficiency of copper.

Characteristics of Menkes Disease

kinky hairs

Growth failures

nervous system disorders

This disease was first proposed by John Hans Menkes in 1962. Males have more Disorders of Menkes than in females.

This is the disease that is common in childhood or babyhood, it is a falling on about 1 in 100000 to 250000 new baby. This type of baby cannot live more than three years, In some cases, the symptoms of Menkes emerged after three years.

Signs and symptoms of Menkes Disease

An affected baby may be born immaturely. symptoms of this prematurely appear during childhood, after two to three months of normal development which is caused by loss of early development and development have done after the proper time.

Characteristics:

patients possess weak muscles tone

Failure to blossom

hypothermia (body temperature is below the standard temperature)

sagging (hanging downward) facial appearance

seizures (a sudden or violent movement of a limb or any part of the body which is caused due to contraction of involuntary muscles and cause a direct effect on the nervous system, Epilepsy is due to the presence of any toxins in the blood and also due to fever in children)

The appearance of Hairs:

The appearance of hairs odd or unusual color

may be colorless or silvery may be brittleness also found in it.

There can be widely damaged in the part of the nervous system, especially the brain. The Arteries forced out from its original or natural shape and the inner walls also splits. The arteries may cause blockage and bones can be weakened and causes a severe fracture in bones.

 Syndrome- of- occipital Is a gentle of M D syndrome and is mainly caused in the middle age of childhood. The deposition of ca+ in skeleton especially in origin of the head, Rough hair, joints, and skin also loose.

Causes of Menkes Disease

Chromosome number 21 has a gene ATP7A, M D is due to the change of this disease. This is a recessive disease also inherited genetically.

30 percent of Menkes disease is caused due to mutation and 70 percent is due to inhabitation which is mainly from mother. The M D commonly present in mele children but the females are always considered as the carrier of this disease.

The distribution of copper is poor in the cells of the body, due to mutation in the gene ATP7A. Due to the unequal distribution of copper, copper accumulates in some tissues which not need copper such as small intestine and kidney, while the proper place of storage of copper is the brain and the tissues that associated with the brain have less quantity of copper.

The enzymes that contain copper that perform functions in skin, skeleton, hairs,  and the N S,  Decreased their activity due to lower supply of copper also perform the main role in the structural composition.

The female children that are infected from female mother have more chance to spread of this disease than male children that are affected by this disease.

Mechanism of Menkes Disease

The gene ATP7A contain a protein called trans- protein, this trans-protein transport CU into cell membranes. This trans-protein found everywhere in the body else in the liver.  In small intestine  absorption of copper from food is controlled by gene ATP7A.

For the maintenance of the concentration of copper in the cells, the ATP7A moves between the Golgi bodies or between the cell membrane. These Golgi Apparatus have a protein that has a function of changes in protein sequence and enzymes functioning.

The gene ATP7A present in the Golgi apparatus provides CU in some enzymes, these enzymes are important in the functioning of the skeleton, hairs,  and N S also include in this.

Lysyl oxidase enzyme requires copper for their proper functioning.  This enzyme convert. These strong fibrils participate in various functions that this disease performs.

In the case of excessive copper levels, the ATP7A protein eliminates the excess amount of copper by traveling in the cell membrane.

Due to mutation in the gene ATP7A i.e Deletion(delete or missing of some part of a chromosome) and Insertion(addition of any gene on chromosome) can cause a shortage in ATP7A protein. The generation of  ATP7A gene stops leads in improper CU absorbed from nutrients and CU cannot provide to some genes.

Diagnosis of Menkes Disease

The blood test for the level of copper in the blood is used for the diagnosis of Menkes disease. The hairs can also be examined in an optical microscope for the detection of disorders. Another method of diagnosis includes X_rays of skeleton and skull of the fish. It is an inherited disease that is caused due to mutation in a specific gene.

Treatment of Menkes Disease

The cure for Menke’s disease is very critical. Treatment of Menkes disease is the supplement of copper injections which are in the form of acetate salts. These injections of copper supplements may be some benefits.

About 92 percent newborns alive at the age of 4.5, from total newborns 12. The other treatments show symptoms and also helpful or encouragement. This treatment shows the same type of symptoms like ;

  • Occupational therapy
  • Anti seizures medication
  • Feeding tube
  • Pain medication and
  • Physical therapy also includes in this.

Features of Menkes Disease

  • The face shows some expression like cheeks move downward or skin become bludge.
  • In the chest, a hole becomes appear or a midline depression is formed in the thorax region.
  • Skin becomes loose, especially from the back of the neck and trunk also shows laxity.
  • Affecting the umbilical cord.
  • Muscles having less tension.
  • Failure vigorously.
  • Neurodevelopment disorders.

These features show in the era of three to six months.

MD is supportive of scattered of kinky hairs; weight is also lost, and grows below or up from the expected growth rate. And the nervous system is also declined. Other symptoms of MD is the weakness of muscles and low tension in the skin of the face.

This ATP7A in charge of the generation of CU and also maintain the copper level in the body by producing an enzyme ATPase.  ATPase regulates the copper levels. Disorder in the gene ATP7A cause variation in the MD.

The x_linked disorder of Menkes mainly occurs in males.  In females, the gene that is responsible for Menkes disorder present at chromosome that is responsible for sex and it caused as a carrier of Menkes disease.

Inheritance sequence of Menkes Disease

MD is inherited by a recessive gene by a pattern called x_linked pattern. X-chromosome has a gene that causes Menkes disease, which is also a sex chromosome. The change of only a part on x-chromosome in males can cause this MD. Males have one x and one y chromosome. But in the case of females, the change in both x chromosomes can cause MD. Because females have two x chromosomes and both are responsible for this mutation. Father can not transfer the gene because males have only one x chromosome that caused MD.

The Female considered as a carrier of MD and she does not show the symptoms of this disease because she has two x chromosomes, one is inactivated and the gene appears at non– functional part of the chromosome. 

The x chromosome has an inactivated gene. The mother carries an x chromosome to male and a male contain x chromosome than it also has a gene on a chromosome that carries disease.

A male that has an x chromosome will carry the gene of disease to all of their daughters, they are all also disease carriers. Male can not pass their x chromosome to their sons because a son is born due to the y chromosome from their father. The age of male that has infected with Menkes disease is not too long.

Symptoms of Menkes Disease

  • Symptoms of Menkes disease are brittle, tangled, Steeley hairs that have white or gray. The other symptoms of Menkes disease that cheeks hang downward and face showed unusual features, eyebrows also abnormal.
  • The infants born due to MD have an abnormal brain. The level of bilirubin is high and body temperature remains low frequently. Jaundice is caused due to a high level of bilirubin in the blood.
  • The infants that have this MD may also have low temperatures. The rate of development become slow for two to three months. Early loss of skills becomes a loss, main development becomes late, involuntary muscles start contraction and relaxation.
  • Brain show severe reactions such as blood clot in the brain
  • Clotting of blood in the arteries does not occur properly
  • Bones become weakened and also cause a fracture in bones.

The clotting of blood and bone fracture can cause something to go wrong in children. There are the following symptoms of this disease ;

  1. Gaining of weight is difficult
  2. Irritated in growth
  3. Nervous system disorders also occure
  4. Drop of skin of face
  5. Disability of mentle
  6. Muscles become also weak

Seizures also occured.

There are following symptoms also be observed  ;

  • After short time of pregnency
  • The babies are born by surgery have irregular shape of head
  • Hypothermia also occure (low temp. Of body)
  • Blood sugar also low
  • Skin become yellowish color and eyes requires treatment of several days in light due to sign of jaundice
  • A hole is formed on the chest

Menkes Disease (MNK) Syndrome:

It is a recessive disorder caused due to mutations in genes that codes the copper transport protein ATP7A,  this mutation caused the deficiency of copper.

Characteristics

kinky hairs

Growth failures

nervous system disorders

This disease was first proposed by John Hans Menkes in 1962. Males have more Disorders of Menkes than in females.

This is the disease that is common in childhood or babyhood, it is a falling on about 1 in 100000 to 250000 new baby. This type of baby cannot live for more than three years, In some cases, the symptoms of Menkes emerged after three years.

Signs and symptoms of Menkes Disease

The affected baby may be born immaturely. symptoms of this prematurely appear during childhood, after two to three months of normal development which is caused by loss of early development and development have done after the proper time.

characteristics :

The disease in which observance of copper is disturbed. In this disease, the body produced a very low concentration of copper. Thus deficiency of copper causes a disease called Menkes Disease.

patients posses weak muscles tone

Failure to blossom

hypothermia(body temperature is below the standard temperature) sagging(hanging downward) facial appearance

seizures (a sudden or violent movement of a limb or any part of the body which is caused due to contraction of involuntary muscles and cause a direct effect on the nervous system, Epilepsy is due to the presence of any toxins in the blood and also due to fever in children)

The appearance of Hairs:

The appearance of hairs  odd or unusual color

may be colorless or silvery maybe

brittleness also found in it.

There can be widely damaged in the part of the nervous system, especially the brain. The Arteries forced out from its original or natural shape and the inner walls also splits. The arteries may cause blockage and bones can be weakened and causes severe fractures in bones.

Diagnosis of Menkes Disease

By measuring the amount of copper in blood predict the Menkes disease and concentration of ceruloplasmin in blood also diagnosed the MD but these concentrations have not scientific proof.

Another method of measuring the level of catecholamine in the plasma of blood. Mutation in the gene also confirmed by the help of molecular genetics.

Treatment of Menkes Disease

Treatment is done after predicting the disease. In this process, first of all, put a small tube into the abdomen with the help of a hole which opens into the stomach and food also supplied to with the help of this tube. Surgery is needed if a person posses some type of sack.

Patients life increase by early and proper management of copper level and also a burst of neurological tissues in those patients decrease.

If this treatment is done through the mouth than the intestine can not absorb it so it injects into the skin that intestine absorbs this copper chloride readily. Neurological disorders do not occur if the management of copper is done before some days of birth.

Penicillamine Treatment: The use of penicillamine is done during the use of copper for the prevention of excess amounts of copper in the blood.

Vitamin C treatment: Vitamin c have no appropriate result but it is observed that this vitamin has some positive results.

Vitamin E Treatment: Vitamin E has some antitoxic effects so it can also be prescribed for copper level management.

DNA is a genetic part of a gene which is directly injected into the brain, Virus is used for this therapy. Research on this treatment is being in the process.

Development of Intervention;

The use of copper chloride increase the blood serum and SPF level from a range within a few days I.e 42 days. This treatment is more effective than others and also have more positive results. With the help of this treatment, bones become strong and the level of minerals also maintains. After this copper level does not have any effect on parental care. The ratios of all the minerals in the body remain at a normal level.

Summary of Menkes Disease

The disease in which the body has a problem of observing copper. In this disease, the observance of copper is very low. Thus the deficiency of copper level in the

the body leads to a condition called Menkes disease.

Explanation:

This disease changes the growth of the body and mind both. MD is a fatal disease in which the intestine fails to absorb copper. So it causes the brain and other tissues of the body to fail to perform the normal body functions. MD is an inherited problem. This means that this disease transfer from parents to offspring. MD leads families to families

in this way. It is an x-linked disease because the affected genes are present passes to their offspring. There are 50% chances to transfer their x_chromosomes in son and 50% transfer to their daughter.

The symptoms always appear in sons and daughter remains carriers. Mostly this disease fault occurs before birth. But sometimes it is not an inherited disease. The reason is that this defect appears after birth.

Sources/ Reasons:

Menkes Disease is an inherited disease.

It is an x-linked disease in which disorders take in genes ATP7A. There are mutations in the gene that encoded for copper transport protein.

This defect is seen only in the ATP7A gene. So copper deficiency leads to the growth failure of mental retardedness and kinky hairs.

This disease is more common in male than female and so appear its symptoms only in the male. J.H.Menkes in 1962 first describe this disease. This is a rare disease. It causes out of 100000-250000 newborns in only one child chance.

The affected child did not live three years after birth. Fault in the ATP7A gene leads to this disease. So the fault made it difficult for the body to transport copper properly in the whole body. So it causes the deficiency of copper in the body.

Brain and other organs not get sufficient copper and suffer in this disease. Copper accumulated in the kidney and intestine. When copper level become low then it effects the many parts of the body. Some parts of the body which are affected are

given below

1-Hair

2-Bone

3-Skin

4-Blood vessels

5-Nerves

6-Brain

These parts are affected more than others. These parts of the body did not perform the normal function.

Indication:

Symptoms of MD are given below:

The body feels pain and sometimes show emotions.

The body temperature of the affected person always remains low.

There is no rest to the affected body.

The affected body has brickle hair.

The body has lean and tousle hair. Plump body.

Rosy cheeks and sexy facial skin.

Eating is very difficult.

Dullness is common

Child growth is a delay.

Mechanism:

The gene ATP7A is responsible for encoding the protein that helps the copper to cross from the cell membrane. Transmembrane protein found throughout the body but it is absent in the liver. ATP7A protein in the intestine helps that control the CU absorption in the nutrients.

In other types of cells, ATP7A protein goes to the cell membrane and Golgi complex for maintaining copper quantity in the cell. The ATP7A protein which is present in the Golgi complex. It is to modify the protein and even enzyme. ATP7A protein gives copper to the enzyme which is responsible for the work and structure of the body organ.

These organs are nerves, blood vessels, skin, and bone. Lysyl oxidase is an enzyme that requires Cufor normal work. Sometimes if the Cu+ level increases to a normal ratio, then this protein goes to the cell membrane and excrete it through the membrane. In the case of mutation in a gene, ATP7A leads to the deletion of parts of the gene. So the protein becomes short.

These cases stop the function of the protein and also stop the functional protein ATP7A. So it leads to the improper absorption of protein from food. In this way, cooper is not supplied to the enzyme.

Test – Diagnosis of Menkes Disease

MD can be easily diagnosed by testing the copper level in the blood, testing of skin, the examination of hair with help of optical microscope. Urine tests help in the early detection of disease. There are some tests which are given below

1-Copper blood test

2- Check the defective gene by gene testing3- Should be an x-ray of skeleton and skull

4- Urine test

Cure of menkes disease

This disease has no cure. The copper injection should be injected for some benefits.

Only 92% 0f 12 newborn 10 who are diagnosed in MD are alive for 3-6 years. It has no typical treatment. Early treatment is better than later.

 

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