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Homocystinuria: Symptoms, Cause and Treatment

What is Homocystinuria?

Homocystinuria is a hereditary disorder of the metabolism of the amino acid methionine which is caused by deficiency in cystathionine synthase. It is characterized by extreme amounts of the amino acid homocystine in the urine

Causes of Homocystinuria

  • Hereditary is the usual cause of homocystinuria and it is due to two pathways such as transsulfuration pathway or methylation pathway.
  • Genetic predisposition to abnormal activity may also cause to this disease.
  • Nutritional and environmental factors are also responsible for the occurrence of this disease.
  • Due to the increased level of methionine and homocystine in the blood.

Symptoms of Homocystinuria

  • Psychiatric disturbances
  • Seizures
  • Mental retardation
  • Delays in activity like walking, sitting and crawling
  • Tall, thin build
  • Knock-knees
  • Weakness of the bones
  • Formation of blood clots

Treatment of Homocystinuria

  • Pyridoxine is also known as vitamin B-6 is useful for some patient.
  • Low methionine diet is useful for them who do not reply pyrodoxine.
  • Folic acid is used to reduce plasma homocysteine
  • Betaine or cyanocobalamin are helpful for other symptom.
  • Nutritional supplement is used to control Homocystinuria level.
  • L-thyroxine is also helpful to stabilize Homocystinuria level.
  • Surgical treatment is used to treat pupillary-block glaucoma.

Disclaimer: This site is for educational purposes only. The information provided should not be used for diagnosing or treating a health problem or disease. If you have, or suspect you have a health problem, you should consult your health care provider.