Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine. Amino acids are the building blocks of life.
Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit a non-working copy of the gene from each parent to be seriously affected.
Homocystinuria has several features in common with Marfan syndrome, including joint and eye changes.
Newborn infants appear healthy. Early symptoms, if present, are not obvious.
Symptoms may occur as mildly delayed development or failure to thrive. Increasing visual problems may lead to diagnosis of this condition.
Other symptoms include:
Chest deformities (pectus carinatum, pectus excavatum)
Flush across the cheeks
High arches of the feet
Spidery fingers (arachnodactyly)
Tall, thin build