The Experts below are selected from a list of 243 Experts worldwide ranked by ideXlab platform
Sobue - One of the best experts on this subject based on the ideXlab platform.
-
Clinicopathologic features of Folate-Deficiency neuropathyAuthor Response
Neurology, 2015Co-Authors: Gianpietro Sechi, Haruki Koike, Chiara Fois, Alberto Addis, Elia Sechi, Ken Ohyama, Yuichi Kawagashira, Masahiro Iijima, SobueAbstract:Koike et al.1 reported a slowly progressive, prevalent sensory polyneuropathy in patients with Folate Deficiency, which shows some distinctive clinical features with respect to thiamine-Deficiency neuropathy.2 However, as the authors mention, the clinical manifestations of Folate Deficiency may be indistinguishable from those of cobalamin Deficiency because of their interaction in one carbon metabolic pathway.3 In addition, thiamine is poorly absorbed during Folate Deficiency, because of frequent diarrhea as a result of damaged gastrointestinal mucosa. …
-
Clinicopathologic features of Folate-Deficiency neuropathy
Neurology, 2015Co-Authors: Haruki Koike, Ken Ohyama, Yuichi Kawagashira, Masahiro Iijima, Mie Takahashi, Rina Hashimoto, Masahisa Katsuno, Hiroshi Doi, Fumiaki Tanaka, SobueAbstract:Objective: The clinical significance and characteristics of neuropathy caused by Folate Deficiency remain to be established. Methods: We examined the clinicopathologic features of 18 consecutive patients with neuropathy caused by Folate Deficiency who presented with low serum Folate levels but normal blood thiamine and serum cobalamin levels in the absence of chronic alcoholism. Results: Symptoms were relatively uniform, characterized by slowly progressive polyneuropathy with predominant involvement of the lower extremities, with a tendency to manifest as sensory rather than motor neuropathy and predominant deep rather than superficial sensory loss. The electrophysiologic features were consistent with axonal neuropathy. The histopathologic features of sural nerve biopsy specimens indicated large fiber–predominant axonal loss without segmental demyelination. Although macrocytosis was found in 7 patients, only 3 patients exhibited hemoglobin levels less than 10 g/dL. During the same study period, we found 12 patients who had low blood thiamine levels but normal serum Folate and cobalamin levels without chronic alcoholism. Compared with patients who had thiamine-Deficiency neuropathy, patients with a Folate Deficiency showed significantly slower progression ( p p p p Conclusions: Folate-Deficiency neuropathy was characterized by a slowly progressive and sensory-dominant pattern, which was different from thiamine-Deficiency neuropathy (i.e., beriberi neuropathy). This study demonstrates the importance of Folate Deficiency in the differential diagnosis of neuropathy, particularly in countries where folic acid fortification has not yet been practiced.
-
Slowly progressive Folate-Deficiency myelopathy: report of a case.
Journal of the Neurological Sciences, 2013Co-Authors: Akinori Okada, Haruki Koike, Tomohiko Nakamura, Hirohisa Watanabe, SobueAbstract:Abstract Background Folate Deficiency is known to be associated with subacute combined degeneration of the spinal cord; however, reports of long-standing cases are rare. Although neurological deficits due to Folate Deficiency have been reported to respond to folic acid supplementation, the functional outcomes have not been fully elucidated. Objective The aim of the study was to evaluate the clinical features and response to Folate supplementation in a patient with Folate Deficiency manifested over 10 years as a slowly progressive myelopathy. Methods We performed comprehensive clinical screening, electrophysiological testing, and posturography before and after Folate supplementation. Results A 49-year-old man had a slowly progressive gait disturbance for 10 years. He had not eaten fresh green vegetables for more than 10 years. Neurological examination revealed spastic paraplegia and absence of any vibration sense in the lower limbs accompanied by a positive Romberg's sign. Serum Folate level was low, and plasma homocysteine level was elevated. Levels of blood thiamine and serum cobalamin were normal. We diagnosed the patient with myelopathy due to Folate Deficiency. Folic acid supplementation led to improvement of his symptoms; posturography and walking speed tests showed partial improvement, while the somatosensory-evoked potentials and central motor conduction time remained unchanged. Conclusions Folate Deficiency should be considered as a differential diagnosis of chronic slowly progressive myelopathy. The present case suggests the importance of early diagnosis and treatment before the adverse neurological manifestations of Folate Deficiency become irreversible.
-
The significance of Folate Deficiency in alcoholic and nutritional neuropathies: analysis of a case.
Nutrition, 2012Co-Authors: Haruki Koike, Yuichi Kawagashira, Masahiro Iijima, Rina Hashimoto, Tetsuo Hama, Minoru Tomita, SobueAbstract:Abstract Objective To elucidate the significance of Folate Deficiency in alcoholic and nutritional neuropathies. Methods We preformed a comprehensive clinical screening of a patient with chronic alcoholism who manifested neuropathy, macrocytic anemia, liver dysfunction, and Folate Deficiency. Results A 33-y-old woman with chronic alcoholism presented with acutely progressive glove- and stocking-type sensorimotor polyneuropathy. Although an episode of neuropathy preceded the current episode by 2 y, its cause was never determined. The findings of nerve conduction studies were indicative of axonal neuropathy. Laboratory findings revealed macrocytic anemia and liver dysfunction. Her serum level of Folate was reduced, whereas thiamine, riboflavin, and cobalamin levels were within normal range. The neuropathy and anemia showed gradual recovery after the initiation of folic acid supplementation. Conclusions This case study indicates that Folate Deficiency should be monitored closely in patients with chronic alcoholism and associated malnutrition. Additionally, Folate Deficiency should be considered as a differential diagnosis of neuropathy.
Rafael Artuch - One of the best experts on this subject based on the ideXlab platform.
-
Cerebral Folate Deficiency: Analytical Tests and Differential Diagnosis
Journal of inherited metabolic disease, 2019Co-Authors: Simon Pope, Rafael Artuch, Simon Heales, Shamima RahmanAbstract:Cerebral Folate Deficiency is typically defined as a Deficiency of the major Folate species 5-methyltetrahydroFolate in the cerebrospinal fluid (CSF) in the presence of normal peripheral total Folate levels. However, it should be noted that cerebral Folate Deficiency is also often used to describe conditions where CSF 5-MTHF is low, in the presence of low or undefined peripheral Folate levels. Known defects of Folate transport are Deficiency of the proton coupled Folate transporter, associated with systemic as well as cerebral Folate Deficiency, and Deficiency of the Folate receptor alpha, leading to an isolated cerebral Folate Deficiency associated with intractable seizures, developmental delay and/or regression, progressive ataxia and choreoathetoid movement disorders. Inborn errors of Folate metabolism include deficiencies of the enzymes methylenetetrahydroFolate reductase, dihydroFolate reductase and 5,10-methenyltetrahydroFolate synthetase. Cerebral Folate Deficiency is potentially a treatable condition and so prompt recognition of these inborn errors and initiation of appropriate therapy is of paramount importance. Secondary cerebral Folate Deficiency may be observed in other inherited metabolic diseases, including disorders of the mitochondrial oxidative phosphorylation system, serine Deficiency, and pyridoxine dependent epilepsy. Other secondary causes of cerebral Folate Deficiency include the effects of drugs, immune response activation, toxic insults and oxidative stress. This review describes the absorption, transport and metabolism of Folate within the body; analytical methods to measure Folate species in blood, plasma and CSF; inherited and acquired causes of cerebral Folate Deficiency; and possible treatment options in those patients found to have cerebral Folate Deficiency.
-
Clinical, etiological and therapeutic aspects of cerebral Folate Deficiency
Expert review of neurotherapeutics, 2015Co-Authors: Marta Molero-luis, Cristina Sierra, Mercedes Serrano, Belén Pérez-dueñas, Angels García-cazorla, M. O'callaghan, Rafael ArtuchAbstract:Cerebral Folate Deficiency is defined as any neurological condition associated with low cerebrospinal fluid Folate concentrations. It is becoming increasingly associated with several neurological diseases, either genetic or environmental. Treatment of cerebral Folate Deficiency by Folate supplementation is generally effective, improving the neurological outcome of some patients. However, to treat cerebral Folate Deficiency, the proper choice of one of the available Folate forms is essential. The distinct brain Folate metabolism features compared with peripheral Folate metabolic pathways strongly suggest the investigation of different Folate forms, such as the biologically active folinic acid and 5-methyltetrahydroFolate, since they are efficiently transported to the brain. Regarding the oral doses of the different Folate forms, despite the fact that there are some recommendations, there is no general consensus. Further investigation and designing clinical trials are advisable to elucidate these aspects.
-
Cerebral Folate Deficiency
2015Co-Authors: Caused A Mitochondrial, Abelardo Solano, Maria D. Herrero, Rafael ArtuchAbstract:Objective: Our aim was to describe a child with an in-complete form of Kearns–Sayre syndrome who presented profound cerebrospinal fluid (CSF) Folate Deficiency and his response to folinic acid supplementation Methods: CSF 5-methyltetrahydroFolate was analyzed by HPLC with fluorescence detection and mitochondrial DNA de-letions by southern blot hybridization. Results: Cranial magnetic resonance imaging showed a leukoencephalop-athy. Profound CSF 5-methyltetrahydroFolate Deficiency was observed with normal blood Folate values and de-creased CSF/serum Folate ratio, suggesting a transport de-fect across the blood–brain barrier. Folinic acid treatment was established, and after 1 year clinical response to fo-linic supplementation was remarkable, with almost nor-mal white matter image. Interpretation: The clinical re
-
Folate analysis for the differential diagnosis of profound cerebrospinal fluid Folate Deficiency
Clinical Biochemistry, 2011Co-Authors: Aida Ormazabal, Cristina Sierra, Roser Urreitzi, Mercè Pineda, Mercedes Serrano, Belén Pérez-dueñas, Angels García-cazorla, Julio Montoya, Jaume Campistol, Rafael ArtuchAbstract:Abstract Objective To evaluate the automated determination of total cerebrospinal fluid (CSF) Folates for the diagnosis of cerebral Folate Deficiency. Method CSF and serum samples were analyzed in 60 children with different neurological disorders. Result In all patients with genetic conditions leading to profound cerebral Folate Deficiency (impaired Folate transport and metabolism), the automated Folate determination showed altered values. Conclusion CSF Folate quantification provided profound CSF Folate Deficiency diagnosis caused either by Folate transport or metabolism deficiencies.
-
Folate analysis for the differential diagnosis of profound cerebrospinal fluid Folate Deficiency.
Clinical biochemistry, 2011Co-Authors: Aida Ormazabal, Cristina Sierra, Roser Urreitzi, Mercè Pineda, Mercedes Serrano, Belén Pérez-dueñas, Angels García-cazorla, Julio Montoya, Jaume Campistol, Rafael ArtuchAbstract:To evaluate the automated determination of total cerebrospinal fluid (CSF) Folates for the diagnosis of cerebral Folate Deficiency. CSF and serum samples were analyzed in 60 children with different neurological disorders. In all patients with genetic conditions leading to profound cerebral Folate Deficiency (impaired Folate transport and metabolism), the automated Folate determination showed altered values. CSF Folate quantification provided profound CSF Folate Deficiency diagnosis caused either by Folate transport or metabolism deficiencies. Copyright © 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
Haruki Koike - One of the best experts on this subject based on the ideXlab platform.
-
Clinicopathologic features of Folate-Deficiency neuropathyAuthor Response
Neurology, 2015Co-Authors: Gianpietro Sechi, Haruki Koike, Chiara Fois, Alberto Addis, Elia Sechi, Ken Ohyama, Yuichi Kawagashira, Masahiro Iijima, SobueAbstract:Koike et al.1 reported a slowly progressive, prevalent sensory polyneuropathy in patients with Folate Deficiency, which shows some distinctive clinical features with respect to thiamine-Deficiency neuropathy.2 However, as the authors mention, the clinical manifestations of Folate Deficiency may be indistinguishable from those of cobalamin Deficiency because of their interaction in one carbon metabolic pathway.3 In addition, thiamine is poorly absorbed during Folate Deficiency, because of frequent diarrhea as a result of damaged gastrointestinal mucosa. …
-
Clinicopathologic features of Folate-Deficiency neuropathy
Neurology, 2015Co-Authors: Haruki Koike, Ken Ohyama, Yuichi Kawagashira, Masahiro Iijima, Mie Takahashi, Rina Hashimoto, Masahisa Katsuno, Hiroshi Doi, Fumiaki Tanaka, SobueAbstract:Objective: The clinical significance and characteristics of neuropathy caused by Folate Deficiency remain to be established. Methods: We examined the clinicopathologic features of 18 consecutive patients with neuropathy caused by Folate Deficiency who presented with low serum Folate levels but normal blood thiamine and serum cobalamin levels in the absence of chronic alcoholism. Results: Symptoms were relatively uniform, characterized by slowly progressive polyneuropathy with predominant involvement of the lower extremities, with a tendency to manifest as sensory rather than motor neuropathy and predominant deep rather than superficial sensory loss. The electrophysiologic features were consistent with axonal neuropathy. The histopathologic features of sural nerve biopsy specimens indicated large fiber–predominant axonal loss without segmental demyelination. Although macrocytosis was found in 7 patients, only 3 patients exhibited hemoglobin levels less than 10 g/dL. During the same study period, we found 12 patients who had low blood thiamine levels but normal serum Folate and cobalamin levels without chronic alcoholism. Compared with patients who had thiamine-Deficiency neuropathy, patients with a Folate Deficiency showed significantly slower progression ( p p p p Conclusions: Folate-Deficiency neuropathy was characterized by a slowly progressive and sensory-dominant pattern, which was different from thiamine-Deficiency neuropathy (i.e., beriberi neuropathy). This study demonstrates the importance of Folate Deficiency in the differential diagnosis of neuropathy, particularly in countries where folic acid fortification has not yet been practiced.
-
Slowly progressive Folate-Deficiency myelopathy: report of a case.
Journal of the Neurological Sciences, 2013Co-Authors: Akinori Okada, Haruki Koike, Tomohiko Nakamura, Hirohisa Watanabe, SobueAbstract:Abstract Background Folate Deficiency is known to be associated with subacute combined degeneration of the spinal cord; however, reports of long-standing cases are rare. Although neurological deficits due to Folate Deficiency have been reported to respond to folic acid supplementation, the functional outcomes have not been fully elucidated. Objective The aim of the study was to evaluate the clinical features and response to Folate supplementation in a patient with Folate Deficiency manifested over 10 years as a slowly progressive myelopathy. Methods We performed comprehensive clinical screening, electrophysiological testing, and posturography before and after Folate supplementation. Results A 49-year-old man had a slowly progressive gait disturbance for 10 years. He had not eaten fresh green vegetables for more than 10 years. Neurological examination revealed spastic paraplegia and absence of any vibration sense in the lower limbs accompanied by a positive Romberg's sign. Serum Folate level was low, and plasma homocysteine level was elevated. Levels of blood thiamine and serum cobalamin were normal. We diagnosed the patient with myelopathy due to Folate Deficiency. Folic acid supplementation led to improvement of his symptoms; posturography and walking speed tests showed partial improvement, while the somatosensory-evoked potentials and central motor conduction time remained unchanged. Conclusions Folate Deficiency should be considered as a differential diagnosis of chronic slowly progressive myelopathy. The present case suggests the importance of early diagnosis and treatment before the adverse neurological manifestations of Folate Deficiency become irreversible.
-
Slowly progressive Folate-Deficiency myelopathy: report of a case.
Journal of the neurological sciences, 2013Co-Authors: Akinori Okada, Haruki Koike, Tomohiko Nakamura, Hirohisa Watanabe, Gen SobueAbstract:Folate Deficiency is known to be associated with subacute combined degeneration of the spinal cord; however, reports of long-standing cases are rare. Although neurological deficits due to Folate Deficiency have been reported to respond to folic acid supplementation, the functional outcomes have not been fully elucidated. The aim of the study was to evaluate the clinical features and response to Folate supplementation in a patient with Folate Deficiency manifested over 10 years as a slowly progressive myelopathy. We performed comprehensive clinical screening, electrophysiological testing, and posturography before and after Folate supplementation. A 49-year-old man had a slowly progressive gait disturbance for 10 years. He had not eaten fresh green vegetables for more than 10 years. Neurological examination revealed spastic paraplegia and absence of any vibration sense in the lower limbs accompanied by a positive Romberg's sign. Serum Folate level was low, and plasma homocysteine level was elevated. Levels of blood thiamine and serum cobalamin were normal. We diagnosed the patient with myelopathy due to Folate Deficiency. Folic acid supplementation led to improvement of his symptoms; posturography and walking speed tests showed partial improvement, while the somatosensory-evoked potentials and central motor conduction time remained unchanged. Folate Deficiency should be considered as a differential diagnosis of chronic slowly progressive myelopathy. The present case suggests the importance of early diagnosis and treatment before the adverse neurological manifestations of Folate Deficiency become irreversible. © 2013.
-
The significance of Folate Deficiency in alcoholic and nutritional neuropathies: analysis of a case.
Nutrition (Burbank Los Angeles County Calif.), 2012Co-Authors: Haruki Koike, Yuichi Kawagashira, Masahiro Iijima, Rina Hashimoto, Tetsuo Hama, Minoru Tomita, Gen SobueAbstract:To elucidate the significance of Folate Deficiency in alcoholic and nutritional neuropathies. We preformed a comprehensive clinical screening of a patient with chronic alcoholism who manifested neuropathy, macrocytic anemia, liver dysfunction, and Folate Deficiency. A 33-y-old woman with chronic alcoholism presented with acutely progressive glove- and stocking-type sensorimotor polyneuropathy. Although an episode of neuropathy preceded the current episode by 2 y, its cause was never determined. The findings of nerve conduction studies were indicative of axonal neuropathy. Laboratory findings revealed macrocytic anemia and liver dysfunction. Her serum level of Folate was reduced, whereas thiamine, riboflavin, and cobalamin levels were within normal range. The neuropathy and anemia showed gradual recovery after the initiation of folic acid supplementation. This case study indicates that Folate Deficiency should be monitored closely in patients with chronic alcoholism and associated malnutrition. Additionally, Folate Deficiency should be considered as a differential diagnosis of neuropathy. Copyright © 2012 Elsevier Inc. All rights reserved.
Akinori Okada - One of the best experts on this subject based on the ideXlab platform.
-
Slowly progressive Folate-Deficiency myelopathy: report of a case.
Journal of the Neurological Sciences, 2013Co-Authors: Akinori Okada, Haruki Koike, Tomohiko Nakamura, Hirohisa Watanabe, SobueAbstract:Abstract Background Folate Deficiency is known to be associated with subacute combined degeneration of the spinal cord; however, reports of long-standing cases are rare. Although neurological deficits due to Folate Deficiency have been reported to respond to folic acid supplementation, the functional outcomes have not been fully elucidated. Objective The aim of the study was to evaluate the clinical features and response to Folate supplementation in a patient with Folate Deficiency manifested over 10 years as a slowly progressive myelopathy. Methods We performed comprehensive clinical screening, electrophysiological testing, and posturography before and after Folate supplementation. Results A 49-year-old man had a slowly progressive gait disturbance for 10 years. He had not eaten fresh green vegetables for more than 10 years. Neurological examination revealed spastic paraplegia and absence of any vibration sense in the lower limbs accompanied by a positive Romberg's sign. Serum Folate level was low, and plasma homocysteine level was elevated. Levels of blood thiamine and serum cobalamin were normal. We diagnosed the patient with myelopathy due to Folate Deficiency. Folic acid supplementation led to improvement of his symptoms; posturography and walking speed tests showed partial improvement, while the somatosensory-evoked potentials and central motor conduction time remained unchanged. Conclusions Folate Deficiency should be considered as a differential diagnosis of chronic slowly progressive myelopathy. The present case suggests the importance of early diagnosis and treatment before the adverse neurological manifestations of Folate Deficiency become irreversible.
-
Slowly progressive Folate-Deficiency myelopathy: report of a case.
Journal of the neurological sciences, 2013Co-Authors: Akinori Okada, Haruki Koike, Tomohiko Nakamura, Hirohisa Watanabe, Gen SobueAbstract:Folate Deficiency is known to be associated with subacute combined degeneration of the spinal cord; however, reports of long-standing cases are rare. Although neurological deficits due to Folate Deficiency have been reported to respond to folic acid supplementation, the functional outcomes have not been fully elucidated. The aim of the study was to evaluate the clinical features and response to Folate supplementation in a patient with Folate Deficiency manifested over 10 years as a slowly progressive myelopathy. We performed comprehensive clinical screening, electrophysiological testing, and posturography before and after Folate supplementation. A 49-year-old man had a slowly progressive gait disturbance for 10 years. He had not eaten fresh green vegetables for more than 10 years. Neurological examination revealed spastic paraplegia and absence of any vibration sense in the lower limbs accompanied by a positive Romberg's sign. Serum Folate level was low, and plasma homocysteine level was elevated. Levels of blood thiamine and serum cobalamin were normal. We diagnosed the patient with myelopathy due to Folate Deficiency. Folic acid supplementation led to improvement of his symptoms; posturography and walking speed tests showed partial improvement, while the somatosensory-evoked potentials and central motor conduction time remained unchanged. Folate Deficiency should be considered as a differential diagnosis of chronic slowly progressive myelopathy. The present case suggests the importance of early diagnosis and treatment before the adverse neurological manifestations of Folate Deficiency become irreversible. © 2013.
Aida Ormazabal - One of the best experts on this subject based on the ideXlab platform.
-
Folate analysis for the differential diagnosis of profound cerebrospinal fluid Folate Deficiency
Clinical Biochemistry, 2011Co-Authors: Aida Ormazabal, Cristina Sierra, Roser Urreitzi, Mercè Pineda, Mercedes Serrano, Belén Pérez-dueñas, Angels García-cazorla, Julio Montoya, Jaume Campistol, Rafael ArtuchAbstract:Abstract Objective To evaluate the automated determination of total cerebrospinal fluid (CSF) Folates for the diagnosis of cerebral Folate Deficiency. Method CSF and serum samples were analyzed in 60 children with different neurological disorders. Result In all patients with genetic conditions leading to profound cerebral Folate Deficiency (impaired Folate transport and metabolism), the automated Folate determination showed altered values. Conclusion CSF Folate quantification provided profound CSF Folate Deficiency diagnosis caused either by Folate transport or metabolism deficiencies.
-
cerebral Folate Deficiency syndromes in childhood clinical analytical and etiologic aspects
JAMA Neurology, 2011Co-Authors: Aida Ormazabal, Belen Perezduenas, Claudio Toma, Barbara Torrico, Bru Cormand, Mercedes SerranoAbstract:Background Cerebral Folate Deficiency may be amenable to therapeutic supplementation. Diverse metabolic pathways and unrelated processes can lead to cerebrospinal fluid 5-methyltetrahydroFolate (5-MTHF) depletion, the hallmark of cerebral Folate Deficiency. Objective To analyze cerebral Folate abundance in a large prospective series of children diagnosed with any neurologic disorder for which a diagnostic lumbar puncture was indicated. Design We studied the spectrum and frequency of disorders associated with cerebral Folate Deficiency by measuring cerebrospinal fluid 5-MTHF, biogenic amines, and pterins. Direct sequencing of the FOLR1 transporter gene was also performed in some patients. Setting Academic pediatric medical center. Participants We studied 134 individuals free of neurometabolic disease and 584 patients with any of several diseases of the central nervous system. Results Of 584 patients, 71 (12%) exhibited 5-MTHF Deficiency. Mild to moderate Deficiency (n = 63; range, 19-63 nmol/L) was associated with perinatal asphyxia, central nervous system infection, or diseases of probable genetic origin (inborn errors of metabolism, white matter disorders, Rett syndrome, or epileptic encephalopathies). Severe 5-MTHF depletion (n = 8; range, 0.6-13 nmol/L) was detected in severe MTHF reductase Deficiency, Kearns-Sayre syndrome, biotin-responsive striatal necrosis, acute necrotizing encephalitis of Hurst, and FOLR1 defect. A strong correlation was observed between cerebrospinal fluid and plasma Folate levels in cerebral Folate Deficiency. Conclusions Of the 2 main forms of cerebral Folate Deficiency identified, mild to moderate 5-MTHF Deficiency was most commonly associated with disorders bearing no primary relation to Folate metabolism, whereas profound 5-MTHF depletion was associated with specific mitochondrial disorders, metabolic and transporter defects, or cerebral degenerations. The results suggest that 5-MTHF can serve either as the hallmark of inborn disorders of Folate transport and metabolism or, more frequently, as an indicator of neurologic dysfunction.
-
Folate analysis for the differential diagnosis of profound cerebrospinal fluid Folate Deficiency.
Clinical biochemistry, 2011Co-Authors: Aida Ormazabal, Cristina Sierra, Roser Urreitzi, Mercè Pineda, Mercedes Serrano, Belén Pérez-dueñas, Angels García-cazorla, Julio Montoya, Jaume Campistol, Rafael ArtuchAbstract:To evaluate the automated determination of total cerebrospinal fluid (CSF) Folates for the diagnosis of cerebral Folate Deficiency. CSF and serum samples were analyzed in 60 children with different neurological disorders. In all patients with genetic conditions leading to profound cerebral Folate Deficiency (impaired Folate transport and metabolism), the automated Folate determination showed altered values. CSF Folate quantification provided profound CSF Folate Deficiency diagnosis caused either by Folate transport or metabolism deficiencies. Copyright © 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.