遗传性叶酸吸收不良：一种具有血液学和神经学表现的罕见可治性疾病。 - Suppr

Hereditary Folate Malabsorption: A Rare Treatable Disorder with Hematological and Neurological Manifestations.

作者信息

Kumar Madhan, Yoganathan Sangeetha, Todari Siddarth, Suresh Parvathy, Chandran Mahalakshmi, Danda Sumita, Mathew Leni Grace, Koshy Beena, Thomas Maya

机构信息

Department of Pediatrics, Christian Medical College, Vellore, Tamil Nadu, India.

Pediatric Neurology Unit, Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.

出版信息

Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):1238-1241. doi: 10.4103/aian.aian_1118_21. Epub 2022 Dec 3.

DOI:10.4103/aian.aian_1118_21

PMID:36911455

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9996535/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4728/9996535/1175d6b64725/AIAN-25-1238-g001.jpg

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Hereditary Folate Malabsorption: A Rare Treatable Disorder with Hematological and Neurological Manifestations.遗传性叶酸吸收不良：一种具有血液学和神经学表现的罕见可治性疾病。

Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):1238-1241. doi: 10.4103/aian.aian_1118_21. Epub 2022 Dec 3.

The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1.首例伴有SLC46A1基因新突变的遗传性叶酸吸收障碍的中国病例报告。

Brain Dev. 2015 Jan;37(1):163-7. doi: 10.1016/j.braindev.2014.01.010. Epub 2014 Feb 15.

Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant.可治疗的全血细胞减少症、反复感染和难治性癫痫的病因：由于新型致病性变异导致遗传性叶酸吸收不良（Hereditary Folate Malabsorption，HFM）。

Indian J Pediatr. 2021 Jun;88(6):586-588. doi: 10.1007/s12098-020-03548-w. Epub 2020 Nov 4.

Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.肌注亚叶酸成功治疗遗传性叶酸吸收不良

Pediatr Neurol. 2020 Jan;102:62-66. doi: 10.1016/j.pediatrneurol.2019.06.009. Epub 2019 Jun 22.

An infantile case of hereditary folate malabsorption with sudden development of pulmonary hemorrhage: a case report.遗传性叶酸吸收不良婴儿病例：伴发突发性肺出血：病例报告。

J Med Case Rep. 2022 Jun 30;16(1):268. doi: 10.1186/s13256-022-03448-x.

A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption. Nicaraguan 患儿遗传性叶酸吸收不良中质子偶联叶酸转运蛋白（PCFT；SLC46A1）的新型缺失突变。

Gene. 2013 Sep 25;527(2):673-4. doi: 10.1016/j.gene.2013.06.039. Epub 2013 Jun 28.

Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report.首例携带新型SLC46A1基因突变的巴勒斯坦家庭新生儿中，遗传性叶酸吸收不良表现为中性粒细胞减少性发热——病例报告

Ann Med Surg (Lond). 2022 Jul 31;80:104253. doi: 10.1016/j.amsu.2022.104253. eCollection 2022 Aug.

Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.患有遗传性叶酸吸收不良的土耳其同胞中质子偶联叶酸转运体基因（PCFT-SLC46A1）的突变

Pediatr Hematol Oncol. 2010 Nov;27(8):614-9. doi: 10.3109/08880018.2010.481705.

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.肌内注射亚叶酸在遗传性叶酸吸收不良治疗中的作用：三例报告

JIMD Rep. 2018;39:7-12. doi: 10.1007/8904_2017_39. Epub 2017 Jul 7.

Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.伴有SLC46A1基因新突变的遗传性叶酸吸收不良：一例报告。

Medicine (Baltimore). 2017 Dec;96(50):e8712. doi: 10.1097/MD.0000000000008712.

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Hereditary Folate Malabsorption Presenting With Pancytopenia in Two Siblings: A Case Report.两例同胞全血细胞减少伴遗传性叶酸吸收不良：病例报告

Cureus. 2025 Aug 11;17(8):e89809. doi: 10.7759/cureus.89809. eCollection 2025 Aug.

本文引用的文献

Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.肌注亚叶酸成功治疗遗传性叶酸吸收不良

Pediatr Neurol. 2020 Jan;102:62-66. doi: 10.1016/j.pediatrneurol.2019.06.009. Epub 2019 Jun 22.

The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.质子偶联叶酸转运体（PCFT-SLC46A1）与婴儿全身性和脑叶酸缺乏综合征：遗传性叶酸吸收不良。

Mol Aspects Med. 2017 Feb;53:57-72. doi: 10.1016/j.mam.2016.09.002. Epub 2016 Sep 21.

Folic acid and diseases - supplement it or not?叶酸与疾病——是否补充叶酸？

Rev Assoc Med Bras (1992). 2016 Jan-Feb;62(1):90-100. doi: 10.1590/1806-9282.62.01.90.

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency.脑脊液5-甲基四氢叶酸连续监测以指导质子偶联叶酸转运体（PCFT）缺乏所致先天性叶酸吸收不良的治疗。

JIMD Rep. 2015;24:91-6. doi: 10.1007/8904_2015_445. Epub 2015 May 26.

Hereditary folate malabsorption with extensive intracranial calcification.伴有广泛颅内钙化的遗传性叶酸吸收不良。

Indian Pediatr. 2015 Jan;52(1):67-8. doi: 10.1007/s13312-015-0571-8.

Cerebral folate deficiency.脑叶酸缺乏症。

J Inherit Metab Dis. 2010 Oct;33(5):563-70. doi: 10.1007/s10545-010-9159-6. Epub 2010 Jul 29.

Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.一种肠道叶酸转运蛋白的鉴定及遗传性叶酸吸收不良的分子基础

Cell. 2006 Dec 1;127(5):917-28. doi: 10.1016/j.cell.2006.09.041.

Hereditary folate malabsorption: family report and review of the literature.遗传性叶酸吸收不良：家族报告及文献综述

Medicine (Baltimore). 2002 Jan;81(1):51-68. doi: 10.1097/00005792-200201000-00004.

Congenital malabsorption of folate.

Am J Med. 1970 May;48(5):580-3. doi: 10.1016/0002-9343(70)90007-0.

Congenital folate malabsorption.先天性叶酸吸收不良。

Eur J Pediatr. 1985 Mar;143(4):284-90. doi: 10.1007/BF00442302.

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Hereditary Folate Malabsorption: A Rare Treatable Disorder with Hematological and Neurological Manifestations.

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