| Title | The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1 |
| Authors | Wang, Qiao Li, Xiyuan Ding, Yuan Liu, Yupeng Qin, Yaping Yang, Yanling |
| Affiliation | Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China. Similan Clin, Beijing 100070, Peoples R China. |
| Keywords | Hereditary folate malabsorption Cerebral folate deficiency Megaloblastic anemia Intracranial calcification Proton-coupled folate transporter SLC46A1 gene FOLINIC ACID TRANSPORTER |
| Issue Date | 2015 |
| Publisher | brain development |
| Citation | BRAIN & DEVELOPMENT.2015,37,(1),163-167. |
| Abstract | Background: Hereditary folate malabsorption is a rare, autosomal recessive disorder of proton-coupled folate transporter deficiency resulting in folate deficiency. Left untreated, the condition can cause severe brain damage and megaloblastic anemia, leading to progressive psychomotor retardation, seizures and other neurological problems. Early diagnosis and treatment are crucial. No case has been documented yet in Mainland China until now. Methods: A Chinese girl affected by hereditary folate malabsorption was studied. The girl presented with recurrent megaloblastic anemia from the age of 7 months. Paroxysmal limbs trembling and seizures were presented from the age of three years. Intracranial calcification was noted by CT. At her age of 5 years, mental regression, lower-extremity weakness and sleeping problems were observed. Her plasma folate decreased to 4.49 nmol/L (normal control > 6.8 nmol/L). Plasma total homocysteine elevated to 28.11 mu mol/L (normal control < 15 mu mol/L). Folate and 5-methylterahydrofolate in cerebrospinal fluid were significantly decreased to undetectable level. Results: On SLC46A1 gene, a novel mutation, c.1A>T (M1L), and a reported mutation c.194-195insG (p.Cys66LeufsX99) were identified, supported the diagnosis of hereditary folate malabsorption. Each parent carries one of two mutations. Folinic calcium supplement resulted in rapid clinical improvement. She is currently 6 years old with normal development and routine blood features. Conclusion: Hereditary folate malabsorption is one of the few easily-treatable inherited metabolic diseases. Measurements of folate and 5-methyltetrahydrofolate in cerebrospinal fluid are keys for the diagnosis of the patients. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
| URI | http://hdl.handle.net/20.500.11897/160020 |
| ISSN | 0387-7604 |
| DOI | 10.1016/j.braindev.2014.01.010 |
| Indexed | SCI(E) PubMed |
| Appears in Collections: | 第一医院 |
