Test Database

Description

HPLC with fluorescence detection Due to the relocation of the Nutristasis service to the Blackfriars Hub site, this test is not currently accredited by UKAS to ISO15189.

Clinical details

Cerebral folate deficiency (CFD) is a neurological condition associated with low levels of 5MTHF in the CSF with normal 5MTHF in the peripheral circulation. In CFD the age of onset for symptoms is 4-6 months when there is deceleration of head growth, irritability and insomnia. After 6 months there is a delay in neurodevelopmental milestones including psychomotor retardation and hypotonia with poor postural control. After six years of age visual disorders may also develop. Some of the children also develop spasticity, speech difficulties and epilepsy. There have been a number of suggested causes for CFD including decreased transport across the blood-brain barrier. The suggested mechanisms for the decreased transport across the blood-brain barrier include blocking of folate receptor 1 by autoantibodies and mutations in the FOLR1 gene. A possible mechanism of autoantibody production can be exposure to soluble folate receptors from milk because soluble folate receptors in cow's milk have 90 % homology to the human receptor. Treatment of CFD with folinic acid over a long period can significantly improve clinical symptoms in patients with CFD.

Related condition

Cerebral folate deficiency (CSF). Conditions causing secondary CSF folate deficiency include: Rett syndrome (from chronic use of anticonvulsant drugs and antifolate drugs), Aicardi-Goutieres syndrome; Kearns-Sayre syndrome; inherited neurometabolic disorders including dihydropteridine reductase deficiency, 5,10 MTHF reductase deficiency and mitochondrial disorders including white-matter lesions

Reference range

age related: 0-10 months - 66-203;11 months-4 years - 48-127; >5 yrs 35-124

Units

nmol/L

Synonyms

Folate CSF, 5-MTHF

Testing site

Synnovis : Reference Services : Blackfriars Hub

Laboratory

Nutristasis Unit