Metabolic disorders
Metabolic Disorders
Metabolic disorders (/mɛtəˈbɒlɪk dɪsˈɔːrdərz/) are a group of conditions that occur due to the disruption of the body's normal metabolic processes. These disorders can be caused by a variety of factors, including genetic mutations, nutritional deficiencies, and environmental influences.
Etymology
The term "metabolic" is derived from the Greek word "metabole" which means change, referring to the chemical changes that occur within cells to sustain life. "Disorder" comes from the Old French "desordre" meaning lack of order or regular arrangement.
Types of Metabolic Disorders
There are many different types of metabolic disorders, some of which include:
- Diabetes Mellitus: A condition characterized by high blood sugar levels due to the body's inability to produce or effectively use insulin.
- Phenylketonuria (PKU): A genetic disorder that results in the body's inability to metabolize the amino acid phenylalanine.
- Galactosemia: A rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.
- Glycogen Storage Diseases: These are genetic metabolic disorders that result from defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
Symptoms
Symptoms of metabolic disorders can vary widely depending on the specific disorder and the individual affected. Common symptoms can include fatigue, weight loss or gain, frequent urination, excessive thirst, and poor growth in children.
Diagnosis and Treatment
Diagnosis of metabolic disorders typically involves blood tests, genetic testing, and in some cases, tissue biopsies. Treatment can involve dietary changes, medications, and in some cases, surgery.
Related Terms
- Metabolism: The chemical processes that occur within a living organism in order to maintain life.
- Enzyme: A substance produced by a living organism that acts as a catalyst to bring about a specific biochemical reaction.
- Gene: A unit of heredity that is transferred from a parent to offspring and is held to determine some characteristic of the offspring.
External links
- Medical encyclopedia article on Metabolic disorders
- Wikipedia's article - Metabolic disorders
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