Homocystinuria due to defect in methylation cbl e
Overview
An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) 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 * Small head * Psychomotor retardation * Periods of reduced consciousness * Mental retardation * Neurological symptoms * Reduced muscle tone * Nystagmus * Respiratory distress * Wasting of brain tissue (cerebral cortex * Abnormal amino acid metabolism
Prognosis
The 'prognosis' of Homocystinuria due to defect in methylation cbl e usually refers to the likely outcome of Homocystinuria due to defect in methylation cbl e. The prognosis of Homocystinuria due to defect in methylation cbl e may include the duration of Homocystinuria due to defect in methylation cbl e, chances of complications of Homocystinuria due to defect in methylation cbl e, probable outcomes, prospects for recovery, recovery period for Homocystinuria due to defect in methylation cbl e, survival rates, death rates, and other outcome possibilities in the overall prognosis of Homocystinuria due to defect in methylation cbl e. Naturally, such forecast issues are by their nature unpredictable.
Treatment
* Hydroxocobalamin