Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 

Glossary for Homocystinuria due to defect in methylation cbl e

  • Bone changes: Changes to the bones as a symptom
  • Chest deformity: Malformation or distortion the normal appearance of teh chest.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Glaucoma: Glaucoma is the term for a diverse group of eye diseases, all of which involve progressive damage to the optic nerve. Glaucoma is usually, but not always, accompanied by high intraocular (internal) fluid pressure. Optic nerve damage produces certain characteristic visual field defects in the individual's peripheral (side), as well as central, vision.
  • Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Pectus excavatum: Depression of the breast bone - sunken chest appearance. The condition is usually a congenital deformity but may occur in association with conditions such as rickets, Marfan syndrome and Poland syndrome. Severe cases may result in breathing problems or may affect heart function.
  • Scoliosis: Sideways curvature of the spine
  • Urinary system conditions: Medical conditions affecting urination, urinary organs or the urinary system.

 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise