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Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body. More detailed information about the symptoms, causes, and treatments of Homocystinuria is available below.
See full list of 44 symptoms of Homocystinuria
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Prognosis for Homocystinuria: The range and severity of symptoms and manifestations can vary considerably depending on whether the condition is diagnosed in a timely manner and whether treatment is adhered to. Patients that respond to vitamin B6 tend to fare better as they're condition is able to be managed better and complications can be avoided.
More about prognosis of Homocystinuria
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The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
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Types of Homocystinuria
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An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979) - (Source - Diseases Database)
Homocystinuria is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Homocystinuria, or a subtype of Homocystinuria,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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