Homocystinuria

From Health Encyclopedia

Contents 1 Used for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

Used for

cystathionine synthase deficiency, hyperhomocysteinemia

Broader Terms

enzyme deficiency, inborn aminoacid metabolism disorder, mental retardation

Related Terms

autosomal recessive trait

Scope Note

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.

Facts (generated by robot; please edit if you find it inaccurate)

• Homocystinuria is a treatable disorder that affects the way the body processes protein.
• Homocystinuria Important It is possible that the main title of the report Homocystinuria is not the name you expected.
• Date:2/07/2005 Type:Conditions Print This Email This Homocystinuria Definition Homocystinuria is an inherited disorder of themetabolism of the amino acid methionine.
• What is its incidence? Homocystinuria is a very rare disease that affects about 1 out of every 200,000 to 300,000 babies born in Ontario.
• Homocystinuria To purchase full-text report ($7.
• Homocystinuria Incidence Neonatal screening (Guthrie test) has shown the incidence to be 1 in 157,000, while that in Ireland is much higher at 1 in 65,000.

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