The neurologic aspects of transcobalamin II deficiency.
Thirty-four symptomatic cases of inherited transcobalamin II (TCII) deficiency were analysed in order to determine the frequency and nature of neurologic manifestations. In no instance was there definite evidence of a neurologic disorder at the time of presentation as a young infant. One child of 2 1/2 years transiently lost deep tendon reflexes at a time of suboptimal treatment. A syndrome of mental retardation and other neurologic manifestations was observed in three cases, all with the following in common: (1) an extended duration of illness of 2-17 years; (2) inadequate or not treatment with Cbl; (3) treatment with folic of folinic acid. TCII deficiency rarely if ever presents with neurologic manifestations. However, neurologic disorders can be produced subsequently by improper treatment.
Hall
C A
CA
Stratton Veterans Affairs Medical Center, Albany, New York 12208.
D002493:Central Nervous System Diseases / Q000209:etiology; D005492:Folic Acid / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D002955:Leucovorin / Q000627:therapeutic use; D009422:Nervous System Diseases / Q000209:etiology*; D013997:Time Factors; D014155:Transcobalamins / Q000172:deficiency*; D014805:Vitamin B 12 / Q000627:therapeutic use
D014155:Transcobalamins; D005492:Folic Acid; D014805:Vitamin B 12; D002955:Leucovorin