Metabolism is the process the body uses to derive energy and to synthesize other molecules it requires from the food we consume by the enzymatic reactions. The body stores the energy in various tissues such as the liver, muscles and body fat. Metabolic diseases can develop when critical enzymes are disabled or the control mechanism for the metabolic pathway becomes affected. There are various forms of disorders that can affect the breakdown of amino acids, lipids or carbohydrates. Metabolic disorders can also develop when an organ such as the pancreas or the liver become diseases and unable to function effectively. Some of the types of metabolic disorders include adrenoleukodystrophy, hartnup disease, maple syrup disease, gaucher disease, diabetes type 1, malabsorption syndromes, alkaptonuria and cystinosis.
Adrenoleukodystrophy (ALD)
This rare condition is inherited in an X-linked genetic trait that mostly develops in males. This occurs with the accumulation of high levels of saturated, very long-chain fatty acids in the brain and the adrenal cortex as the result of insufficient production of an enzyme that breaks-down fatty acids. As the result, the fatty covering of the nerves of the spinal cord and the brain degenerate and are unable to effectively function. They can also present abnormal blood pressure, hormone insufficiency, sexual dysfunction and reproduction problems.
Hartnup disease
This is an inherited metabolic disorder developing when the body is unable to absorb certain amino acids and as the result, they are unable to use the amino acids to produce essential substances such as proteins. The symptoms of this disease include the high levels of certain amino acids in their urine, development of skin rashes, difficulties with the coordination of movements, problems with cognitive development and psychiatric symptoms.
Maple syrup urine disease
This inherited condition develops as the result of the body’s inability to breakdown certain amino-acids particularly leucine, isoleucine and valine. The accumulation of these amino acids can be harmful to the body. The symptoms of this disease can become evident within the first few weeks of the infant’s life and include sweet-smelling urine, poor feeding, loss of appetite, weight loss and sweating. They can also have the metabolic crisis which includes lack of energy, irritability, vomiting and breathing difficulties.
Gaucher disease
This genetic disease occurs as the result of the accumulation of certain fatty substances in various parts of the body such as the liver and the spleen causing them to enlarge and affecting their normal function. Gaucher disease is caused by the deficiency of an enzyme known as betaglucocerebrosidase. Some of the symptoms of Gaucher disease include low platelet count, anemia, fatigue, bleeding problems, spontaneous fractures, bone pain and bone tissue deterioration.
Malabsorption syndromes
This occurs when the small intestine is unable to effectively absorb the essential nutrients such as fats, proteins and vitamins. Some of the malabsorption syndromes include lactose intolerance, celiac disease, crohn’s disease and cystic fibrosis. Enterokinase deficiency is a congenital disorder affecting the protein digestion. Neonates and young infants are particularly at high risk of developing chronic diarrhea and malnutrition as the result of this syndrome. Some of the commonly associated symptoms include weight loss, chronic diarrhea, gas and abnormal stool.
References
http://rarediseases.org/rare-diseases/adrenoleukodystrophy/
http://rarediseases.org/rare-diseases/hartnup-disease/
http://www.nhs.uk/Conditions/maple-syrup-urine-disease/Pages/Introduction.aspx
http://www.gaucherdisease.org/about-gaucher-disease/what-is/
https://medlineplus.gov/malabsorptionsyndromes.html
https://www.ncbi.nlm.nih.gov/books/NBK22259/
