Carbohydrate 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. Chemicals in your digestive system (enzymes) break 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 tissues. If you have a metabolic disorder, something goes wrong with this process.

Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.

These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

Symptoms of Carbohydrate Metabolism Disorders

The following features are indicative of Carbohydrate Metabolism Disorders:
  • convulsions
  • irritability
  • lethargy
  • poor feeding
  • baby refuses to eat formula containing milk
  • poor weight gain
  • yellow skin and whites of the eyes
  • vomiting
  • diarrhea
  • nausea
  • abdominal cramps
  • bloating
  • gas
It is possible that Carbohydrate Metabolism Disorders shows no physical symptoms and still is present in a patient.

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Common Causes of Carbohydrate Metabolism Disorders

The following are the most common causes of Carbohydrate Metabolism Disorders:
  • deficiency of the enzyme galactose-1- phosphate uridyl transferase
  • lactose intolerance

Risk Factors for Carbohydrate Metabolism Disorders

The following factors may increase the likelihood of Carbohydrate Metabolism Disorders:
  • family history
  • increasing age
  • ethnicity
  • premature birth
  • diseases affecting the small intestine
  • certain cancer treatments

Prevention of Carbohydrate Metabolism Disorders

Yes, it may be possible to prevent Carbohydrate Metabolism Disorders. Prevention may be possible by doing the following:
  • genetic counseling helps in making decisions about pregnancy and prenatal testing
  • drink fat-free or low-fat milk
  • choose reduced-lactose milk products and milk

Occurrence of Carbohydrate Metabolism Disorders

Number of Cases

The following are the number of Carbohydrate Metabolism Disorders cases seen each year worldwide:
  • Very common > 10 Million cases

Common Age Group

Carbohydrate Metabolism Disorders can occur at any age.

Common Gender

Carbohydrate Metabolism Disorders can occur in any gender.

Lab Tests and Procedures for Diagnosis of Carbohydrate Metabolism Disorders

The following lab tests and procedures are used to detect Carbohydrate Metabolism Disorders:
  • Genetic testing: To see whether the individual carry the disease causing gene
  • Blood tests: For screening carbohydrate metabolism disorders
  • Hydrogen breath test: To measure the hydrogen level in the breath at set time intervals after drinking a lactose beverage
  • Lactose intolerance test: To measure the amount of glucose in the blood after drinking a lactose beverage
  • Stool acidity test: To check certain acids in the stool

Doctor for Diagnosis of Carbohydrate Metabolism Disorders

Patients should visit the following specialists if they have symptoms of Carbohydrate Metabolism Disorders:
  • Endocrinologist
  • Gastroenterologist

Complications of Carbohydrate Metabolism Disorders if untreated

Yes, Carbohydrate Metabolism Disorders causes complications if it is not treated. Below is the list of complications and problems that may arise if Carbohydrate Metabolism Disorders is left untreated:
  • cataracts
  • cirrhosis of the liver
  • delayed speech development
  • irregular menstrual periods
  • reduced function of ovaries leading to ovarian failure
  • mental disability
  • severe infection with bacteria (E coli sepsis)
  • tremors (shaking) and uncontrollable motor functions
  • osteoporosis
  • can be fatal

Procedures for Treatment of Carbohydrate Metabolism Disorders

The following procedures are used to treat Carbohydrate Metabolism Disorders:
  • Speech therapy: Helpful in treating children with speech apraxia or dysarthria
  • Hormone replacement therapies: To treat delayed puberty

Self-care for Carbohydrate Metabolism Disorders

The following self-care actions or lifestyle changes may help in the treatment or management of Carbohydrate Metabolism Disorders:
  • Limit milk products: Helps in preventing this disease

Alternative Medicine for Treatment of Carbohydrate Metabolism Disorders

The following alternate medicine and therapies are known to help in the treatment or management of Carbohydrate Metabolism Disorders:
  • Use calcium supplements: Helpful in treating the disease

Patient Support for Treatment of Carbohydrate Metabolism Disorders

The following actions may help Carbohydrate Metabolism Disorders patients:
  • Join support groups: Helps in coping with the disease

Time for Treatment of Carbohydrate Metabolism Disorders

While time-period of treatment for each patient may vary, below is the typical time-period for Carbohydrate Metabolism Disorders to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

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

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