Homocystinuria and Cobalamin Disorders

Co se diagnózou změní

Knowing allows treatment with vitamin B6, B12, folate, betaine and diet as appropriate, which can prevent lens dislocation, thrombosis and other complications.

Analyzované geny

Známé také jako

CBS deficiency; cystathionine beta synthase deficiency; cystathionine synthase deficiency; homocystinuria (disease)

Co se diagnózou změní

Knowing allows lifelong vitamin B12 injections or other cobalamin treatment, which can prevent anaemia and neurological damage.

Analyzované geny

Známé také jako

cobalamin deficiency; hypocobalaminemia; inborn error of cobalamin metabolic process; inborn vitamin B12 deficiency (disease); rare inborn error of cobalamin metabolic process

Co se diagnózou změní

Knowing explains a raised methionine result and supports monitoring in the rare severe forms.

Analyzované geny

Známé také jako

brain demyelination due to methionine adenosyltransferase deficiency; hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; isolated persistent hypermethioninemia; MAT deficiency; MAT I/III deficiency; methionine adenosyltransferase deficiency, autosomal recessive

Co se diagnózou změní

Knowing allows a methionine-restricted diet and supplements, which can improve some features.

Analyzované geny

Co se diagnózou změní

Knowing allows treatment with folinic acid, which can improve or prevent neurological symptoms when started early.

Analyzované geny

Známé také jako

cerebral folate deficiency syndrome