Cerebral folate transport deficiency
- Synonyms
- Cerebral folate deficiency syndrome; FOLATE RECEPTOR DEFICIENCY; Neurodegeneration due to cerebral folate transport deficiency; Neurodegenerative syndrome due to cerebral folate transport deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:FOLR1-related cerebral folate transport deficiency (FOLR1-CFTD), resulting from loss of function of the folate receptor alpha (FOLR1) protein, causes cerebral folate deficiency in the absence of systemic folate deficiency. Individuals with untreated FOLR1-CFTD have very low cerebrospinal fluid (CSF) levels and progressive neurologic deterioration with developmental delays and progressive cognitive impairment, behavioral issues, seizures, and movement disorders that may progress to immobility. Despite these incapacitating neurologic findings, untreated individuals can live well into adulthood. Treatment with 5-formyltetrahydrofolate (5-formylTHF; also known as folinic acid or leucovorin) can result in substantial improvement in neurologic findings when started at a young age. Treatment of asymptomatic or mildly symptomatic younger sibs at the time of diagnosis of their older sibs can either prevent the neurologic signs of this disorder or result in marked or complete regression of the neurologic findings.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- I David Goldman
- view full author information
Available tests
67 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (67 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Neurodegeneration
Neurodegeneration
- MedGen UID: 17999
- Concept ID: C0027746
- Finding: Cell or Molecular Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Developmental regression
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