Homocystinuria due to defect in methylation (cbl g)

Overview

An inherited organic acid disorder where an enzyme deficiency (methionine synthase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.

Symptoms

* Anemia * Poor coordination * High urine homocystine level * Low blood methionine level * High blood homocystine level * Mental retardation * Neurological symptoms * Reduced muscle tone * Nystagmus * Respiratory distress * Wasting of brain tissue (cerebral cortex * Abnormal amino acid metabolism

Prognosis

Prognosis of Homocystinuria due to defect in methylation (cbl g): early treatment is necessary to prevent permanent neurological damage