In the last two decades there were occasional reports of advanced clotting in arteries feeding the brains of children with homocystinuria, as the genetic condition is called.
22.
Moderately high levels of homocysteine are also found in people who carry a single gene for homocystinuria; two such genes are needed to cause the severe metabolic disorder.
23.
Of these, sickle cell anemia is the most common, affecting 1 baby in 400, and the rarest is homocystinuria, affecting 1 in 275, 000.
24.
_Homocystinuria, occurring in one baby in 275, 000, involves a deficiency of an enzyme that converts homocysteine into cystathionine, needed for normal brain development.
25.
Patients of the " cblE " complementation group of disorders of folate / cobalamin metabolism which results in homocystinuria are defective in reductive activation of methionine synthase.
26.
They are for PKU ( phenylketonuria ), congenital hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria and sickle cell anemia.
27.
Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD ( MMADHC ), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin.
28.
The March of Dimes recommends newborn screening for PKU and hypothyroidism, sickle cell and five more rare diseases : congenital adrenal hyperplasia, biotinidase, homocystinuria, maple syrup urine disease and galactosemia.
29.
Vascular dementia also occurs, but this in turn may be due to underlying conditions ( including antiphospholipid syndrome, CADASIL, MELAS, homocystinuria, moyamoya, and Binswanger's disease ).
30.
If the patient has inborn errors in the methyltransfer pathway ( cobalamin C disease, combined methylmalonic aciduria and homocystinuria ), treatment with intravenous, intramuscular hydroxocobalamin or transdermal B 12 is needed.
