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Cystathionine beta synthase deficiency
Newborn infants appear healthy. Early symptoms, if present at all, 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:
While performing a physical examination on the child, the health care provider may notice a tall, thin (Marfanoid) stature.
Other signs include:
If there is poor or double vision, an ophthalmologist should perform a dilated eye exam to look for dislocation of the lens or nearsightedness.
There may be a history of frequent blood clots. Mental retardation, slightly low IQ, or psychiatric disease are common.
Tests:
Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.
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