What to know about homocystinuria

Newborn child getting exam for homocystinuria

Homocystinuria, an inherited disorder, is a rare metabolic condition that impacts 1 in 335,000 people worldwide and is present from birth. Often abbreviated as HCU or HCY, homocystinuria is a genetic disorder that inhibits the body from processing certain amino acids found in proteins, causing a harmful buildup of homocysteine and methionine.

As a result of this harmful buildup, children with homocystinuria often have a fair complexion, struggle with weight gain, grow too tall too quickly, and have developmental delays. Fortunately, homocystinuria is often discovered early in a child’s life — it is part of the blood testing performed in newborns, and quick treatment has been shown to significantly reduce the effect of the disease.

What causes homocystinuria?

Homocystinuria is most often caused by mutations in the CBS gene, but there are other gene mutations that can result in the condition as well. It is passed on through autosomal recessive inheritance, which means a child must received two copies of the mutated gene to develop the condition. 

What are common homocystinuria symptoms?

Homocystinuriat is a condition that impacts every person differently and its symptoms can vary widely. Children with homocystinuria may experience many symptoms or none at all, and will typically not have any symptoms during the first year of their lives. Some of the most common symptoms of homocystinuria include:

  • Pale hair and skin
  • Slow growth
  • Lens dislocation (also called “homocystinuria lens”)
  • Weak bones
  • Blood clots
  • Seizures
  • Developmental delays
  • Learning disabilities
  • Behavioral and emotional problems

 

How to participate in clinical trials for homocystinuria

Caregivers of children with homocystinuria are often looking for options when it comes to their loved one’s treatment plan — and in this case, a clinical trial can be a good option. There are different types of clinical research occurring all the time that aim investigate potential new treatments, therapies, and quality of life improvements. To see if your loved one may be eligible for a homocystinuria clinical trial, click the button below today.