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Amino Acid Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a metabolic disorder, something goes wrong with this process.

One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems.

These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests.

Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.

Symptoms of Amino Acid Metabolism Disorders

The following features are indicative of Amino Acid Metabolism Disorders:
  • mental retardation
  • seizures
  • imperfect hair pigmentation
  • vomiting
  • irritability

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Common Causes of Amino Acid Metabolism Disorders

The following are the most common causes of Amino Acid Metabolism Disorders:
  • enzymatic defect in amino acid metabolism
  • neurological disturbances

Risk Factors for Amino Acid Metabolism Disorders

The following factors may increase the likelihood of Amino Acid Metabolism Disorders:
  • cardiovascular diseases
  • insulin resistance
  • increased amino acids levels

Prevention of Amino Acid Metabolism Disorders

Yes, it may be possible to prevent Amino Acid Metabolism Disorders. Prevention may be possible by doing the following:
  • intake healthy diet
  • intake low phenylalanine diet

Occurrence of Amino Acid Metabolism Disorders

Number of Cases

The following are the number of Amino Acid Metabolism Disorders cases seen each year worldwide:
  • Extremely rare less than 1000 cases

Common Age Group

Amino Acid Metabolism Disorders most commonly occurs in the following age group:
  • Less than 1 year old

Common Gender

Amino Acid Metabolism Disorders can occur in any gender.

Lab Tests and Procedures for Diagnosis of Amino Acid Metabolism Disorders

The following lab tests and procedures are used to detect Amino Acid Metabolism Disorders:
  • Newborn screening: To diagnose inherited disorders
  • Thin layer chromatography: To screen urine for abnormal amino acid patterns
  • High performance liquid chromatographic method: To identify the amino acids quantitatively

Doctor for Diagnosis of Amino Acid Metabolism Disorders

Patients should visit the following specialists if they have symptoms of Amino Acid Metabolism Disorders:
  • Metabolic specialist

Complications of Amino Acid Metabolism Disorders if untreated

Yes, Amino Acid Metabolism Disorders causes complications if it is not treated. Below is the list of complications and problems that may arise if Amino Acid Metabolism Disorders is left untreated:
  • muscle weakness
  • breathing problems
  • seizures

Procedures for Treatment of Amino Acid Metabolism Disorders

The following procedures are used to treat Amino Acid Metabolism Disorders:
  • Transplants: Removes damaged organ and replaces it with a healthy organ from another person
  • Dialysis: Remove harmful substances, like ammonia, from the blood

Self-care for Amino Acid Metabolism Disorders

The following self-care actions or lifestyle changes may help in the treatment or management of Amino Acid Metabolism Disorders:
  • Take less proteins: Reduction of dietary protein helps in managing the complications and treatment of amino acid metabolism disorders

Alternative Medicine for Treatment of Amino Acid Metabolism Disorders

The following alternate medicine and therapies are known to help in the treatment or management of Amino Acid Metabolism Disorders:
  • Dietary supplementation: To help the body process and makes your body stay healthy

Patient Support for Treatment of Amino Acid Metabolism Disorders

The following actions may help Amino Acid Metabolism Disorders patients:
  • Supportive care for children and their families: Coordinate with health care providers

Time for Treatment of Amino Acid Metabolism Disorders

While time-period of treatment for each patient may vary, below is the typical time-period for Amino Acid Metabolism Disorders to resolve if treated properly under an expert supervision:
  • More than 1 year

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Amino Acid Metabolism Disorders.
Carbohydrate Metabolism Disorders
Dietary Proteins
Lipid Metabolism Disorders
Metabolic Disorders

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