What is Metabolic and Endrocrine Genetics?
Metabolic diseases span a vast range of conditions. Inherited metabolic disorders have a defective gene that results in an enzyme deficiency. Metabolic disorders include cystic fibrosis, phenylketonuria (PKU), hyperlipidemia, etc.Most metabolic disorders are genetic in origin. While metabolic disorders are individually rare, collectively they affect 1% to 3% of the world population. The onset of symptoms could be sudden or could progress slowly. Symptoms may be brought on by foods, medications, dehydration, minor illnesses, or other factors. Symptoms of several metabolic conditions appear within a few weeks of birth. Other inherited metabolic disorders might take years to develop.
Genome sequencing continues to reveal the functions and dysfunctions of
particular genes. Therefore, genetic tests are better especially when hormone tests provide ambiguous results. These reveal inheritable components and treatment plans for common health issues such as thyroid disease and rare adrenal tumors.
What are the 6 common Metabolic and Endocrine diseases?
Metabolic Disorders
Endocrine Disorders
Metabolic
Metabolic disorders are common in the United States. About 1 in 3adults have either metabolic or endocrine syndrome. Among US adults aged 18 years or older, the prevalence of metabolic and endocrine syndrome rose by more than 35% from 1988–1994 to 2007–2012, increasing from 25.3% to 34.2%
Endrocrine
Endocrine disorders with U.S. prevalence estimates of at least5% in adults included diabetes mellitus, impaired fasting glucose, impaired glucose tolerance, obesity, metabolic syndrome, osteoporosis, osteopenia, mild-moderate hypovitaminosis D, dyslipidemia, and thyroiditis.
When do you need to get tested for Genetic Metabolic and Endocrine Disorders?
- Weight loss
- Failure to gain weight or grow
- Lethargy • Poor appetite
- Abdominal pain
- Vomiting
- Jaundice
- Seizures
- Developmental delay
- Coma
- Abnormal odour of urine, breath, sweat, or saliva
- Ambiguous genitalia
- Dysgenic gonads
- Short stature
- Obesity with or without associated developmental delay
- Hyperglycemia with a strong family history