Two obscure conditions brought on by B-vitamin deficiencies

A report in the July issue of Neurology reported a case of cerebral folate deficiency, a rare metabolic autoimmune syndrome, in an adult. A 58-year-old woman with progressive memory loss and myoclonus presented for medical attention. Results of cerebral spinal fluid analysis showed low levels of tetrahydrobiopterin and 5-methyltetrahydrofolate. The patient's serum folate level was normal. Serum contained folate receptor 1 blocking and binding antibodies (patient was not absorbing folate at the cellular level). The patient was treated successfully with folinic acid supplementation, and after 6 months of treatment, clinical symptoms had resolved. To the researchers knowledge, they reported the first case of adult-onset cerebral folate deficiency. Furthermore, this condition could represent a treatable form of early-onset dementia.

A second report in Neurology describes a case of vitamin B12 deficiency. A middle-aged man with neuropathy, myelopathy, impaired cognition, and extrapyramidal signs had neurologic and hematologic signs of vitamin B12 deficiency, with elevated methylmalonic acid and homocysteine levels. Brain magnetic resonance imaging showed signal abnormality in the globi pallidi, as can be seen in inherited methylmalonic acidemia. The clinical and radiographic findings reversed with vitamin B12 administration. Vitamin B12 deficiency can present with extrapyramidal symptoms and reversible bilateral globus pallidus abnormalities.

Bonnie: Both of these studies are important because they present unusual cases of B-vitamin deficiency. I see many cases where clients present with normal serum B-12 and folate levels, but still have symptoms of deficiency. While your blood may be circulating normal levels of B-vitamins, it does not mean that you are absorbing them at the cellular level. Epigenetic and genetic predisposition are both indicated. Providing the right sources of B-vitamins through supplementation can remedy the issue, as the aforementioned studies have shown.