Homocistinúria

Descrição

Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. 

The most common form of homocystinuria, called classic homocystinuria, is characterised by tall stature, nearsightedness (myopia), dislocation of the lens at the front of the eye, a higher risk of blood clotting disorders, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.

Less common forms of homocystinuria can cause intellectual disability, slower growth and weight gain (failure to thrive), seizures, and problems with movement. They can also cause and a blood disorder called megaloblastic anaemia, which occurs when a person has a low number of red blood cells (anaemia), and the remaining red blood cells are larger than normal (megaloblastic).

The signs and symptoms of homocystinuria typically develop during childhood, although some mildly affected people may not show signs and symptoms until adulthood.

Padrões de herança

The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.

Related genes

• CBS

• MTHFR

• MTRR

• MTR

• MMADHC

Other names

Cystathionine beta synthase deficiency

Homocysteinemia