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Genetic & Metabolic Support Groups



Diseases resulting from abnormalities within the genes and chromosomes are known as genetic disorders. Metabolic disorders, a large classification of genetic disorders, are also referred to as “inborn errors of metabolism.” The cause of a metabolic disorder is a solitary defective gene which affects enzyme function and production. To empower people with these conditions, online support groups provide networking by using tools like online chatrooms, discussion boards, and the exchange of personal emails with “like minded” individuals.

Genetic and metabolic disease patients and their families require a lot of assistance and support. Finding a specialized online support group is an excellent way for as many patients as possible to connect with others who are also dealing with a similar type of life-altering genetic and metabolic condition. In a mutually respectful and non-stressful environment, up-to-date treatment information from top medical experts can be shared, as well as practical living tips and coping strategies. A patient and their family can ask questions and get honest answers without feeling judged.

Inherited Genetic and Metabolic Disorders

There are hundreds of different genetic and metabolic system disorders. Signs, symptoms, medical treatments, and long term prognoses all vary based on the metabolic problem underlying the condition. Some general signs and symptoms of inherited metabolic disorders include:

  • Lack of energy
  • Pain in the abdominal region
  • Poor appetite and associated loss of weight
  • Jaundice
  • Vomiting
  • Failure to gain weight or “thrive” in infants and young children
  • Child is developmentally delayed
  • Onset of coma
  • Seizures
  • Abnormal smelling saliva, breath, sweat, and/or urine

Genetic and metabolic system disorder symptoms can develop quite suddenly or they can progress slowly. These conditions can come on as the result of consuming certain foods or medications, from being dehydrated, due to having minor illnesses, as well as other factors. The signs and symptoms of many metabolic and genetic conditions often appear within the first few weeks of a newborn’s life. On the other hand, other inherited metabolic disorder symptoms can take many years before they become apparent.

MDJunction can Help

At MDJunction, we offer seventy-five different online support groups especially for patients, parents, and other family members affected by genetic and metabolic system disorders. Among others, these unique groups include:

  • Cystic Fibrosis – The most common inherited disease, caused by a lack of protein used for chloride balance in the body.
  • Down syndrome – A common chromosomal abnormality resulting from an extra copy of genes associated with chromosome 21.
  • Fragile X syndrome – A fairly common condition which results in developmental delay and mental retardation.
  • Hemophilia – A well-known inherited condition where a lack of clotting factor causes increased bleeding.
  • Muscular Dystrophies – Conditions where the individual suffers from serious muscle weakness.


Disclaimer: The information provided in MDJunction is not a replacement for medical diagnosis, treatment, or professional medical advice.
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