Methylcobalamin deficiency- cbl E complementation type
Overview
Methylcobalamin deficiency, cbl E complementation type: An inherited organic acid disorder where an enzyme deficiency (cbl E) impairs the body's ability to break down cobalamin in the diet. This results in a buildup of homocystine which results in harmful affects.
Symptoms
The list of signs and symptoms mentioned in various sources for Methylcobalamin deficiency, cbl E complementation type includes the 10 symptoms listed below: Mental retardation Anemia Abnormal amino acid metabolism Reduced muscle tone Respiratory distress Nystagmus Abnormal nerve conduction Brain degeneration - cerebral cortex High homocystine levels in urine Severe developmental delay Note that Methylcobalamin deficiency, cbl E complementation type symptoms usually refers to various symptoms known to a patient, but the phrase Methylcobalamin deficiency, cbl E complementation type signs may refer to those signs only noticable by a doctor.