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Homocystinuria Learning Center

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Welcome

Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine.Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit the defect...

Basic Info

Symptoms
Newborn infants appear healthy. Early symptoms, if present at all, are not obvious.
Causes
Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit the ...
Tests
While performing a physical examination on the child, the health care provider may notice a tall, thin (Marfanoid) st...
Treatments
There is no cure for homocystinuria. However, many people respond to high doses of vitamin B6 (also known as pyridox...
Complications
Most serious complications result from blood clots. These episodes can be life threatening.
Prevention
Genetic counseling is recommended for prospective parents with a family history of homocystinuria. Intrauterine diag...
Doctor Specialties
Call your health care provider if you or a family member shows symptoms of this disorder, particularly if there is a ...

Basic Info

Related Topics

Rare Disease
Genetic Disorders

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