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Metabolic Disorders

Metabolic Disorders (Inherited)

Inherited metabolic disorders are conditions that cause you to have metabolism issues, except they are genetic and are passed down from a parent. The majority of people with an inherited metabolic disorder has a defective gene causing an enzyme deficiency. There are literally hundreds of inherited metabolic disorders, all of which have different ranges of symptoms, causes, and treatments.

Causes of Inherited Metabolic Disorders

When someone has a metabolic disorder, it means a single enzyme isn’t being produced in the body or it is produced in an abnormal form and is not working properly. Inherited metabolic disorders are passed down to the children of people with the disorder, though it is not guaranteed that a child of someone with a metabolic disorder is going to get this gene. The first times the genetic metabolic disorders were seen were many years ago and the original cause of it is unknown.

Types of Inherited Metabolic Disorders

There are literally hundreds of types of inherited metabolic disorders with new ones being identified regularly. The more common types of inherited metabolic disorders you should be aware of are lysosomal storage disorders, Hurler syndrome, Niemann-Pick disease, Tay-Sachs Disease, Gaucher disease, Fabry disease, Krabbe disease, galactosemia, maple syrup urine disease, phenylketonuria (PKU), glycogen storage diseases, mitochondrial disorders, Friedreich ataxia, Zellweger syndrome, adrenoleukodystrophy, metal metabolism disorders, organic acidemias, urea cycle disorders, and peroxisomal disorders.

Symptoms of Inherited Metabolic Disorders

There are a variety of signs and symptoms that are common among inherited metabolic disorders, though they vary depending on the type of metabolic disorder. Possible symptoms include lethargy, poor appetite, abdominal pain, vomiting, weight loss, jaundice, developmental delay, failure to grow or gain weight, seizures, coma, or abnormal odor of breath, urine, sweat, or saliva. Symptoms of the inherited metabolic disorder can come on suddenly or be more gradual.

Diagnosing Inherited Metabolic Disorder

Some doctors will find the inherited metabolic disorder through physical examinations and routine doctor visits, even though the patient had no idea they had a metabolic disorder. However some people experience some of the above signs and symptoms and their doctor will run DNA or blood tests to look for an inherited metabolic disorder.

Treating Inherited Metabolic Disorder

The treatment for inherited metabolic disorders depends on the type of disorder, but treatments are limited. They include putting the person on a special diet, taking certain supplements that support normal metabolism, or treating the blood with certain chemicals.
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