Homocystinuria

Definition

Homocystinuria is a disorder of metabolism. It causes low levels of a specific enzyme. These enzymes normally help to break down the amino acids methionine and homocysteine. This causes the buildup of these amino acids.

Causes

The most common form of homocystinuria is caused by a deficiency of the enzyme cystathionine beta-synthase. Homocystinuria is a genetic disorder. Both parents must have the defective gene in order for the child to develop the condition. A number of genes have been identified such as CBS, MTHFR, MTR, MTRR, and MMADHC.

Risk Factors

Homocystinuria is more common in New South Wales, Australia, and Ireland.If both parents carry the faulty gene, there is a:
  • 25% chance the child will be born with the disorder
  • 50% chance the child will be a carrier of the faulty gene

Symptoms

The number and severity of symptoms vary. Symptoms may include:
  • Visual problems
  • Excessive bleeding
  • Lightheadedness
  • Flush across the cheeks, fair complexion
  • Seizures
  • Tall, thin build
  • Delays in growth
  • Long limbs
  • High-arched feet
  • Knock-knees
  • Abnormal formation of the rib cage
  • Protrusion of the chest over the sternum
  • Developmental delays
  • Learning disorders
  • Intellectual disability
Blood Clots in the Heart
IMAGE
Copyright © Nucleus Medical Media, Inc.
Homocystinuria may have serious complications, such as the development of blood clots. This could lead to a stroke, heart attack, or severe high blood pressure.

leave comments
0
Did you like this? Share with your family and friends.
Related Topics:
Current Research From Top Journals


Chewing Gum After Surgery May Improve Digestive Tract Recovery
April 2015

A systematic review found that participants given chewing gum after abdominal surgery may have a faster return to normal for their digestive system. Unfortunately, the quality of trials is low and more research will need to be done before this simple solution is confirmed.

dot separator
previous editions

Early Peanut Consumption Associated with Lower Risk of Peanut Allergy in High Risk Children
March 2015

Breastfeeding May Decrease the Risk of Childhood Obesity
February 2015

Tonsillectomy May Reduce Number of Sore Throat Days in Children
February 2015

dashed separator

Advertisement

Our Free Newsletter
click here to see all of our uplifting newsletters »

 

Advertisement

Advertisement

DiggDeliciousNewsvineRedditStumbleTechnoratiFacebook