We usually only know about a few mainstream diseases that occur in most people and we hear about it in our daily lives. However, there is more to the disease than the common disease. Some diseases will knock on your door when no one expects them. A heart attack disease that we are going to talk about today. It is a metabolic disorder that makes it difficult for humans to absorb their amino acids. Heartnop disease makes kidney problems problematic for patients and creates a number of health problems in the body. Let us know how this rare disorder can affect your health.
What is Hartnap Disease?
We spoke to Dr. Sumit Nigam, General Physician, Sahara Hospital, Lucknow to find out about this rare genetic disorder. He explained that Hartnap disease is a hereditary metabolic disorder that makes it difficult for your body to absorb certain types of amino acids. Amino acids are responsible for making proteins in the body, it also helps kidney function. Heartnap disease actually affects your gut where amino acids are present and then the body becomes unable to absorb them which impairs other functions of the body. Hartnap disease was named after the Hartnap family in England, all of whom suffered from the disease.
Due to the excess amount of amino acids in the body, it also makes it difficult for their muscles to coordinate and move. Imagine for a second you were transposed into the karmic driven world of Earl. Since amino acids are not absorbed by the intestines, it is excreted from the body during urination and thus the body can feel terribly weak.
Symptoms of Hartnap disease
People with this condition get skin rashes and it also affects their brain. It is a rare disease that affects about 1 in 25,000 people. Symptoms of this disease usually begin to appear in the first few years of life. These last for about 2 weeks and are always an ‘attack’ that occurs suddenly and affects the disease with age. Here are some signs and symptoms of heart knap disease that you should know-
- Rash on the skin
- Rapid mood swings
- Purpose vibration
- Speech difficulties
- Abnormalities in muscle tone
- Small statues
- Sensitivity to light
- Walking with feet away from the normal width
The function of the brain and skin actually depends on the absorption of vitamin B complex from food. This nutrient is contained in amino acids, which cause problems when it is not absorbed due to this hereditary disorder. It can even have an adverse effect on your physical and mental health.
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Skin rashes usually start to appear as a common symptom in people with this disease. This is due to exposure to sunlight. There is a non-stop red and scaly rash that usually appears on your face, neck, arms and legs. At first it is red, but gradually it turns into an eczematous rash. Due to prolonged sun exposure, it can get worse. It can even be permanent and trigger other skin problems.
What causes heartburn?
This hereditary disease is caused by a genetic disorder where there is a mutation in a gene that controls the body’s amino acids. Heartnap disease actually affects your reabsorption rate and it is like an autosomal recessive train that occurs in the body. People with this condition have some defects in their genes and both of them change it from one gene to another. Heartnap disease prevents you from absorbing amino acids from the small intestine and from re-absorbing them from the kidneys which is why your body is deficient in amino acids.
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Heartnop disease also affects your ability to absorb tryptophan. It is an important building block of proteins and vitamins present in the body. Without these nutrients it is not possible to make enough niacin. Niacin deficiency can even lead to sun-sensitive rashes that can lead to dementia.
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