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Assuming cerebral is required, and folate is required, and deficiency is required, the following 6 results were found.

  1. Metabolic derangements and Autismhttps://cnke.org/articles/126

    is easier for the body to absorb and can cross the blood-brain barrier (Li et al., 2018). Neurologic Symptoms and Cerebral Folate Deficiency: High-dose folinic acid improves neurologic symptoms in cerebral folate deficiency, characterized by...

    • Type: Article
    • Author: Editor CNKE
    • Category: Home
  2. Neurometabolic Disordershttps://cnke.org/articles/knowledge-maps/209

    (vitamin B12) metabolism: Cobalamin C (CblC) defect Methylmalonic acidemia with homocystinuria Folate metabolism: Cerebral folate deficiency Methylenetetrahydrofolate reductase (MTHFR) deficiency Vitamin D-dependent rickets (types I and II) Disorders of...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles (open)
  3. Investigations in Epileptic Encephalopathieshttps://cnke.org/articles/321

    Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor dependency Pyridoxine dependent epilepsy Folinic acid responsive epilepsy Pyridoxal-5′-phosphate responsive epilepsy...

    • Type: Article
    • Author: Editor
    • Category: Home
  4. Vitamin responsive neurological conditionshttps://cnke.org/articles/201

    with biotin supplementation. Holocarboxylase synthetase deficiency: Responsive to biotin. Vitamin B9 (Folate) Cerebral folate deficiency (CFD): Neurological symptoms include developmental regression, irritability, ataxia, and seizures. Treated with...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
  5. 5,10-methenyltetrahydrofolate synthetase deficiencyhttps://cnke.org/articles/261

    Signs & Symptoms Early Signs: Developmental delay Global failure to thrive Microcephaly Progression: Rigidity and spasticity Seizures and epilepsy (various types) Cerebral hypomyelination (visible on MRI) Variability: Severity of disabilities varies...

    • Type: Article
    • Author: Editor
    • Category: Home
  6. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    trial, CSF pterins, and monoamine neurotransmitters. Treatment: Levodopa/carbidopa. 9. Folate Deficiency (Cerebral Folate Deficiency) Presentation: Developmental delays, autism spectrum features. Key Investigations: CSF 5-MTHF low; serum folate normal....

    • Type: Article
    • Author: Editor
    • Category: Home
Results 1 - 6 of 6