Metabolic disorder | |
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Example of mitochondrial disease | |
Specialty | Endocrinology |
Types | Calcium metabolism disorders, Acid-base imbalance, Metabolic brain diseases[1] |
Diagnostic method | DNA test[2] |
Treatment | Variable (see types) |
A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process.[3] It can also be defined as inherited single gene anomaly, most of which are autosomal recessive.[4]
Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder.[medical ] There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms.[5]
Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency.[6] These diseases, of which there are many subtypes, are known as inborn errors of metabolism.[7] Metabolic diseases can also occur when the liver or pancreas do not function properly.[3]
The principal classes of metabolic disorders are:[1]
Metabolic disorders can be present at birth, and many can be identified by routine screening. If a metabolic disorder is not identified early, then it may be diagnosed later in life, when symptoms appear. Specific blood and DNA tests can be done to diagnose genetic metabolic disorders.[2]
The gut microbiota, which is a population of microorganisms that live in the human digestive system, also has an important part in metabolism and generally has a positive function for its host. In terms of pathophysiological/mechanism interactions, an abnormal gut microbioma can play a role in metabolic disorder related obesity.[8]
Metabolic disorder screening can be done in newborns via the following methods:[9]
Metabolic disorders can be treatable by nutrition management, especially if detected early. It is important for dieticians to have knowledge of the genotype to, therefore, create a treatment that will be more effective for the individual.[10]
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