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Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
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Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Cerebral folate deficiency.

Keith Hyland1, John Shoffner, Simon J Heales

  • 1Medical Neurogenetics, Atlanta, GA 30338, USA. khyland@mnglab.com

Journal of Inherited Metabolic Disease
|July 30, 2010
PubMed
Summary
This summary is machine-generated.

Cerebral folate deficiency (CFD) is a neurological condition marked by low 5-methyltetrahydrofolate (5MTHF) in cerebrospinal fluid. Early diagnosis and treatment with folinic acid are crucial, as folic acid can worsen CFD.

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Cerebral folate deficiency (CFD) is characterized by neurological symptoms and low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) with normal peripheral folate levels.
  • Symptoms typically manifest around 4 months of age, including irritability, sleep disturbances, psychomotor retardation, and motor deficits.

Purpose of the Study:

  • To define Cerebral Folate Deficiency (CFD) and its clinical presentation.
  • To outline diagnostic methods and treatment strategies for CFD.
  • To discuss potential causes and differential diagnoses of CFD.

Main Methods:

  • Diagnosis involves measuring 5-methyltetrahydrofolate (5MTHF) concentration in cerebrospinal fluid (CSF).
  • Clinical presentation and patient history are assessed.
  • Genetic analysis for folate receptor 1 (FOLR1) mutations and autoantibody testing may be performed.

Main Results:

  • CFD presents with a range of neurological signs and developmental delays.
  • Low CSF 5MTHF concentration is the key diagnostic marker.
  • Folinic acid is an effective treatment, while folic acid supplementation is contraindicated.

Conclusions:

  • Cerebral folate deficiency requires specific diagnostic approaches, primarily CSF 5MTHF measurement.
  • Prompt treatment with folinic acid can improve outcomes.
  • Differential diagnosis should consider genetic factors, autoimmune processes, metabolic conditions, and drug effects.