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