Cerebral Folate Deficiency

Summarized by Plex Health
Last Updated: 08 May 2022
diagnosis and management of cerebral folate deficiency. a form of folinic acid-responsive seizures. "diagnosis and management of cerebral folate deficiency. a form of folinic acid-responsive seizures.", by Al-Baradie RS, Chaudhary MW. F1: Magnetic resonance imaging (Flair) of a 5 years and 8 month-old male patient with cerebral folate deficiency showing normal myelin signal of callosal structures with decreased myelin signals for white matter and loss of...

Cerebral folate deficiency is a neurological disorder in which advancement is usually normal in the first year of life, but at about 2 years old, affected children begin to lose mental and motor abilities. Cerebral folate deficiency occurs as a result of a deficiency of vitamin B folate in the brain triggered by a low degree of 5-methyltetrahydrofolate in the cerebrospinal liquid as a result of a disruption in the function of the folate receptor alpha. The FRA is extremely based on mitochondrial function leading to disrupting in FRA function in mitochondrial and other metabolic disorders. The symptoms of cerebral folate deficiency may begin as early as 4 to six months old with irritation and sleep troubles. Even though there may be normal folate degrees in the product and red blood, examination of the cerebrospinal liquid reveals a decreased level of 5MTHF. The brain may show up normal on an MRI, however in some affected children, a loss of white matter in the brain might be seen.

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