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HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE(HMAD)

MedGen UID:
341254
Concept ID:
C1848553
Disease or Syndrome
Synonym: HMAD
 
Gene (location): MMADHC (2q23.2)
 
OMIM®: 620952

Definition

Homocystinuria-megaloblastic anemia cblD type (HMAD) is an autosomal recessive metabolic disorder of cobalamin (cbl; vitamin B12) metabolism. Affected individuals present in infancy or early childhood with neurologic abnormalities, including developmental delay, impaired gross motor skills, dystonia or spastic ataxia, poor speech, and cerebral or cerebellar atrophy on brain imaging. Additional more variable features may include nystagmus, poor eye contact, hypotonia, and seizures. Laboratory studies show elevated plasma homocystine, low methionine, and megaloblastic anemia; methylmalonic acid levels are normal. Treatment with betaine, folic acid, and OH-cobalamin results in some improvement of the clinical and biochemical abnormalities (Suormala et al., 2004). See also HMAE (236270) and HMAG (250940). [from OMIM]

Additional description

From MedlinePlus Genetics
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 characterized 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 anemia, which occurs when a person has a low number of red blood cells (anemia), 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.  https://medlineplus.gov/genetics/condition/homocystinuria

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