Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid

Lubout, Charlotte M. A.; Goorden, Susan; Hurk, Karin van den; Jaeger, Bregje; Jager, Nynke G L; Koningsbruggen, Silvana van; Chegary, Malika

doi:10.1016/j.pediatrneurol.2019.06.009

Cited by 11 publications

(13 citation statements)

References 23 publications

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“…This multisystem disorder causes a wide array of manifestations that includes: failure to thrive, gastrointestinal symptoms in the form of diarrhea and oral ulcer, hematological disorders presenting as megaloblastic anemia, with accompanying thrombocytopenia and leukopenia (pancytopenia if accompanied by the later two), immunologically as hypoimmunoglobulinemia, and/or neurologically as seizures, motor impairment and developmental delay [ 4 , 6 , 8 , 9 ]. Our case showed pancytopenia, hypoimmunoglobulinemia, fatigue, feeding refusal and yellowish discoloration.…”

Section: Clinical Discussionmentioning

confidence: 99%

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Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report

Sarhan

Jobran

Mansour

et al. 2022

Annals of Medicine &Amp; Surgery

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Section: Clinical Discussionmentioning

confidence: 99%

“…For patients with neurologically-predominant HFM, computed tomography, and magnetic resonance imaging can detect intracranial calcifications [ 8 , 9 ]. Imaging was not done to our patient as no neurological symptoms were found at the presentation.…”

Section: Clinical Discussionmentioning

confidence: 99%

Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report

Sarhan

Jobran

Mansour

et al. 2022

Annals of Medicine &Amp; Surgery

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“…Laboratory findings show decreased serum and cerebrospinal fluid (CSF) folate, low plasma methionine and increased urinary excretion of formiminoglutamic acid (FIGLU). Early diagnosis and folinic acid treatment with IM injections can avoid neurologic sequelae [ 15 , 16 ].…”

Section: Hereditary Folate Malabsorption and Cerebral Folate Deficien...mentioning

confidence: 99%

“…Congenital folate malabsorption is a rare hereditary autosomal recessive condition due to PCFT gene mutations, with characteristic clinical features mentioned above [ 14 , 15 , 16 ].…”

Section: Causes Of Systemic Folate Deficiencymentioning

confidence: 99%

“…CFD syndrome, due to loss of function FOLR1 mutations, results in very low CSF MTHF values below 10 nmol/L; therefore, higher daily doses up to 5–7 mg/kg are required to restore cerebral folate and reduce clinical manifestations [ 73 ]. In hereditary folate malabsorption caused by PCFT gene mutations, similar high folinic acid intramuscular doses will be necessary to correct low plasma and CSF folates [ 16 ].…”

Section: Treatmentmentioning

confidence: 99%

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Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies

Ramaekers

Quadros

2022

Nutrients

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Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decreased CSF folate levels in the presence of normal folate status outside the nervous system. The specific clinical profile appears to be largely determined by the presence or absence of intrauterine folate deficiency as well as postnatal age at which cerebral folate deficiency occurs. The primary cause of CFDS is identified as the presence of serum folate receptor-alpha (FRα) autoantibodies impairing folate transport across the choroid plexus to the brain whereas, in a minority of cases, mitochondrial disorders, inborn errors of metabolism and loss of function mutations of the FRα (FOLR1) gene are identified. Early recognition and diagnosis of CFDS and prompt intervention is important to improve prognosis with successful outcomes. In this article we focus on FRα autoimmunity and its different age-dependent clinical syndromes, the diagnostic criteria, and treatments to be considered, including prevention strategies in this at-risk population.

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Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism

Rosenblatt¹,

Watkins²

2021

Genetic Disorders and the Fetus

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Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid

Cited by 11 publications

References 23 publications

Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report

Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies

Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism

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