Homocystinuriais a medical condition in which the body does not break down certain proteins intoamino acids.
This article will discuss dietary changes and vitamin supplements for those with homocystinuria.
Generally, signs of the condition will start before the infant is 1 year old.
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People who are only mildly affected by homocystinuria may not have signs or symptoms until adulthood.
The symptoms of homocystinuria include:
Mild vs. ## Inheritance: Homocystinuria Causes
Gene mutations cause homocystinuria.
Mutations of the cystathionine beta-synthase (CBS) gene are the most common cause of homocystinuria.
Other genetic causes of homocystinuria include MTHFR, MTR, MTRR, and MMADHC mutations.
Homocystinuria is a condition that is passed down from parents to their children.
The CBS gene tells the body how to make an enzyme called cystathionine beta-synthase.
This enzyme breaks down the amino acidmethionine.
When the CBS gene has crapped out properly, the body cannot use the amino acid homocysteine.
This results in an excess of homocysteine and methionine in the blood.
Homocystinuria and Vitamin Deficiencies
A common misconception about homocystinuria is that a vitamin deficiency causes it.
While vitamin deficiencies result from homocystinuria, the condition is brought on by genetic mutations.
If you have homocystinuria, you are unable to make the CBS enzyme.
This enzyme uses vitamin B6 to changehomocysteineinto other necessary amino acids.
As a result, you will need vitamin B6 and other vitamin supplements.
Getting a Homocystinuria Diagnosis
A blood test is necessary to diagnose homocystinuria.
Newborns receive thenewborn screeningafter birth, which tests for homocystinuria, among other conditions.
The blood test measures how much methionine and homocysteine are in the blood.
An out-of-range test result does not diagnose homocystinuria.
The healthcare provider will follow up with additional blood tests and genetic testing to confirm a diagnosis.
Low-methionine foods are typicallyvegan.
They include:
Alow-protein dietrestricts the amount of animal and nonanimal protein a person eats.
Homocystinuria Supplements
About 50% of people with homocystinuria will respond to treatment with vitamin B6 supplements.
These people will also need to takevitamin B9(folate) andB12for their entire life.
Treatment for Homocystinuria Complications
Homocystinuria can cause serious complications if treatment is delayed.
Healthcare providers will treat complications based on symptoms and the severity of the event.
Blood clotsare one of the most serious complications of homocystinuria.
Treatment will depend on where the blood clot is located.
Another complication is the dislocation of theeye lens.
Treatment involves lens replacement surgery.
Support can also come fromsocial workersand local support groups.
These resources can guide parents through tough times and help them find support within their community.
Summary
Homocystinuria is an inherited condition passed down by parents to their children.
It causes symptoms like learning disabilities, poor growth, and blood clots.
If quickly diagnosed and treatment is prompt, there generally are good outcomes.
People with the condition will need lifelong treatment with vitamin supplements and diet changes.
Health Resources & Services Administration.Homocystinuria.
National Organization for Rare Disorders.Homocystinuria due to cystathionine beta-synthase deficiency.
Texas Children’s.Methionine food list.
