What is the Difference Between Menkes and Wilson’s Disease

The key difference between Menkes and Wilson’s disease is that Menkes is a copper metabolism disease caused due to a mutation of a gene called ATP7A, while Wilson’s disease is a copper metabolism disease caused due to a mutation of a gene called ATP7B.

Menkes and Wilson’s disease are two diseases that are due to disrupted copper metabolism. Deleterious effects on copper metabolism can happen due to hereditary mutations in genes such as ATP7A and ATP7B coding for copper transporters. Menkes disease is a result of the mutation in the ATP7A gene, and Wilson’s disease is a result of the mutation in the ATP7B gene.

CONTENTS

1. Overview and Key Difference
2. What is Menkes Disease
3. What is Wilson’s Disease
4. Similarities – Menkes and Wilson’s Disease
5. Menkes vs Wilson’s Disease in Tabular Form
6. Summary – Menkes vs Wilson’s Disease

What is Menkes Disease?

Menkes disease is a genetic disease that affects the ability of the body to process copper. Copper is very important to help body systems such as the nervous system, bones, hair, skin, and blood vessels to work. This disease is specifically more common in children and affects children’s nervous systems. Menkes disease affects approximately one of every 100,000 to 250,000 live births worldwide. Boys are affected more than girls by this condition. The symptoms first appear at about 2 to 3 months. The typical symptoms include kinky hair, hypotonia, hypothermia, saggy facial features, seizures, slow growth, weight gain, and yellowish skin and eyes. Moreover, the complications of this disease include brain bleeding, diverticulitis, excessive small bones, low bone density, and twisted blood vessels.

Menkes disease can be diagnosed through blood tests, CT scans, MRI, skin biopsy, ultrasound, urine test, and genetic testing. Furthermore, treatment options for Menkes disease may include subcutaneous injections of copper replacement, which aim to increase the amount of copper in the blood, medications for seizures, inserting a feeding tube, physical therapy, and pain medications.

What is Wilson’s Disease?

Wilson’s disease is a copper metabolism disease that is caused due to a mutation of a gene called ATP7B. It is a rare genetic condition where copper builds up in the body, especially in the liver and brain. Wilson disease typically affects approximately an estimated 1 out of every 30,000 people. This disease usually develops symptoms at the ages of 5 to 40. Some get the symptoms at younger or older ages.

The symptoms may include fatigue, nausea, vomiting, poor appetite, pain over the liver or in the upper part of the abdomen, dark urine, light colour stool, yellow tint in whites of eyes and skin, unexpected weight loss, bloating from a build-up of fluid in the abdomen, edema in lower legs, ankles, feet, itchy skin, problems with speech, swallowing, and physical coordination, stiff muscle, tremors, anxiety, changes in mood, depression, and psychosis. The complications of this disease include haemolytic anemia, arthritis, osteoporosis, cardiomyopathy, renal tubular acidosis, or kidney stones.

Wilson’s disease can be diagnosed through blood tests such as ceruloplasmin, copper, ALT/AST, red blood, liver biopsy, imaging test MRI, X-ray, CT scan, and genetic testing. Furthermore, treatment options for Wilson’s disease may include taking medicines to remove copper from the body chelating agents, D-penicillamine, tetrathiomolybdate, taking zinc to prevent your intestines from absorbing copper and eating a diet low in copper.

What are the Similarities Between Menkes and Wilson’s Disease?

• Menkes and Wilson’s disease are two diseases that are due to disrupted copper metabolism.
• Both diseases are caused by mutations in genes that code for copper transporters.
• These diseases are congenital.
• They may result in nervous system problems.
• Both diseases may result in complications.
• They can be diagnosed through blood tests and imaging tests.
• They are treated through specific medications and supportive therapy.

What is the Difference Between Menkes and Wilson’s Disease?

Menkes is a copper metabolism disease caused due to a mutation of the gene called ATP7A, while Wilson’s disease is a copper metabolism disease caused due to a mutation of the gene called ATP7B. Thus, this is the key difference between Menkes and Wilson’s disease. Furthermore, Menkes disease is a neurodegenerative disorder while Wilson’s disease is a hepatic copper accumulation disorder.

The below infographic presents the differences between Menkes and Wilson’s disease in tabular form for side-by-side comparison.

Summary – Menkes vs Wilson’s Disease

Menkes and Wilson’s disease are two different genetic diseases that are due to disrupted copper metabolism. Both these diseases cause complications. However, Menkes is a copper metabolism disease that happens when there is a mutation in the gene ATP7A, while Wilson’s disease is a copper metabolism disease that happens when there is a mutation in the gene ATP7B. So, this summarizes the difference between Menkes and Wilson’s disease.

Reference:

1. “Wilson Disease: Symptoms & Causes.” Cleveland Clinic.
2. “Menkes Disease: Kinky Hair Syndrome, Low Copper Levels, Occipital Horn.” Cleveland Clinic.

Image Courtesy:

1. “4 38555059990939 sl 5” By TexasPathologistMSW – Own work (CC BY-SA 4.0) via Commons Wikimedia
2. “Menkes disease” By Datta AK, Ghosh T, Nayak K, Ghosh M. Menkes kinky hair disease: A case report. Cases J. 1, 1, 158. 2008. doi:10.1186/1757-1626-1-158. PMID 18801184. (CC BY-SA 3.0) via Commons Wikimedia