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Abnormal blood folate concentration

MedGen UID:
866690
Concept ID:
C4021037
Finding
Synonyms: Abnormal serum folate; Abnormality of folate in blood
 
HPO: HP:0040087

Definition

Any deviation from the normal concentration of folate in the blood circulation. [from HPO]

Conditions with this feature

Transcobalamin II deficiency
MedGen UID:
137976
Concept ID:
C0342701
Disease or Syndrome
Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by Haberle et al., 2009). Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review.
Constitutional megaloblastic anemia with severe neurologic disease
MedGen UID:
462555
Concept ID:
C3151205
Disease or Syndrome
Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.
Imerslund-Grasbeck syndrome type 1
MedGen UID:
865256
Concept ID:
C4016819
Finding
3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic Aciduria Methylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; 302060), is caused by mutation in the tafazzin gene (TAZ; 300394) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3; 258501), caused by mutation in the OPA3 gene (606580) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4; 250951) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5; 610198), caused by mutation in the DNAJC19 gene (608977) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6; 614739), caused by mutation in the SERAC1 gene (614725) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7B, 616271 and MGCA7A, 619835), caused by mutation in the CLPB gene (616254) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MGCA (MGCA8; 617248) is caused by mutation in the HTRA2 gene (606441) on chromosome 2p13. Type IX MGCA (MGCA9; 617698) is caused by mutation in the TIMM50 gene (607381) on chromosome 19q13. Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003. Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'

Professional guidelines

PubMed

Reilly R, McNulty H, Pentieva K, Strain JJ, Ward M
Proc Nutr Soc 2014 Feb;73(1):47-56. Epub 2013 Oct 17 doi: 10.1017/S0029665113003613. PMID: 24131523
Sarkar PK, Lambert LA
Int J Clin Pract 2001 May;55(4):262-8. PMID: 11406912
Van Wyck DB
Nephrol Dial Transplant 2000;15 Suppl 3:36-9. doi: 10.1093/oxfordjournals.ndt.a027975. PMID: 11032356

Recent clinical studies

Etiology

Chen H, Zhang Y, Wang D, Chen X, Li M, Huang X, Jiang Y, Dou Y, Wang Y, Ma X, Sheng W, Jia B, Yan W, Huang G; SPCC (Shanghai Preconception Cohort) Group
Ann Intern Med 2022 Sep;175(9):1212-1220. Epub 2022 Aug 23 doi: 10.7326/M22-0741. PMID: 35994746
Obeid R, Oexle K, Rißmann A, Pietrzik K, Koletzko B
J Perinat Med 2016 Apr;44(3):261-8. doi: 10.1515/jpm-2014-0346. PMID: 25825915
Hague WM
Best Pract Res Clin Obstet Gynaecol 2003 Jun;17(3):459-69. doi: 10.1016/s1521-6934(03)00009-9. PMID: 12787538
Langman LJ, Cole DE
Crit Rev Clin Lab Sci 1999 Aug;36(4):365-406. doi: 10.1080/10408369991239231. PMID: 10486705
Bailey LB
J Nutr 1990 Nov;120 Suppl 11:1508-11. doi: 10.1093/jn/120.suppl_11.1508. PMID: 2243297

Diagnosis

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Sahin-Uysal N, Gulumser C, Kocaman E, Varan B, Bayraktar N, Yanık F
J Matern Fetal Neonatal Med 2020 Aug;33(15):2649-2656. Epub 2019 Jul 1 doi: 10.1080/14767058.2019.1633300. PMID: 31256695
Obeid R, Oexle K, Rißmann A, Pietrzik K, Koletzko B
J Perinat Med 2016 Apr;44(3):261-8. doi: 10.1515/jpm-2014-0346. PMID: 25825915
Tsang BL, Devine OJ, Cordero AM, Marchetta CM, Mulinare J, Mersereau P, Guo J, Qi YP, Berry RJ, Rosenthal J, Crider KS, Hamner HC
Am J Clin Nutr 2015 Jun;101(6):1286-94. Epub 2015 Mar 18 doi: 10.3945/ajcn.114.099994. PMID: 25788000
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828

Therapy

Crider KS, Qi YP, Yeung LF, Mai CT, Head Zauche L, Wang A, Daniels K, Williams JL
Annu Rev Nutr 2022 Aug 22;42:423-452. doi: 10.1146/annurev-nutr-043020-091647. PMID: 35995050Free PMC Article
Chen H, Zhang Y, Wang D, Chen X, Li M, Huang X, Jiang Y, Dou Y, Wang Y, Ma X, Sheng W, Jia B, Yan W, Huang G; SPCC (Shanghai Preconception Cohort) Group
Ann Intern Med 2022 Sep;175(9):1212-1220. Epub 2022 Aug 23 doi: 10.7326/M22-0741. PMID: 35994746
Maffoni S, De Giuseppe R, Stanford FC, Cena H
Nutr Res Rev 2017 Dec;30(2):265-271. Epub 2017 Jun 7 doi: 10.1017/S0954422417000142. PMID: 28587698Free PMC Article
Obeid R, Oexle K, Rißmann A, Pietrzik K, Koletzko B
J Perinat Med 2016 Apr;44(3):261-8. doi: 10.1515/jpm-2014-0346. PMID: 25825915
Bailey LB
J Nutr 1990 Nov;120 Suppl 11:1508-11. doi: 10.1093/jn/120.suppl_11.1508. PMID: 2243297

Prognosis

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
van Uitert EM, Steegers-Theunissen RP
Mol Nutr Food Res 2013 Apr;57(4):582-95. Epub 2012 Dec 4 doi: 10.1002/mnfr.201200084. PMID: 23213022
Obeid R, Herrmann W
Curr Drug Metab 2012 Oct;13(8):1184-95. doi: 10.2174/138920012802850137. PMID: 22746304
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828

Clinical prediction guides

van Uitert EM, Steegers-Theunissen RP
Mol Nutr Food Res 2013 Apr;57(4):582-95. Epub 2012 Dec 4 doi: 10.1002/mnfr.201200084. PMID: 23213022
Hankey GJ, Eikelboom JW
Curr Opin Neurol 2001 Feb;14(1):95-102. doi: 10.1097/00019052-200102000-00015. PMID: 11176224
Letsky EA
J Perinat Med 1995;23(1-2):39-45. doi: 10.1515/jpme.1995.23.1-2.39. PMID: 7658318
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828

Recent systematic reviews

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Dixit R, Nettem S, Madan SS, Soe HHK, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2018 Mar 16;3(3):CD011130. doi: 10.1002/14651858.CD011130.pub3. PMID: 29546732Free PMC Article
Dixit R, Nettem S, Madan SS, Soe HH, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2016 Feb 16;2:CD011130. doi: 10.1002/14651858.CD011130.pub2. PMID: 26880182Free PMC Article
Marchetta CM, Devine OJ, Crider KS, Tsang BL, Cordero AM, Qi YP, Guo J, Berry RJ, Rosenthal J, Mulinare J, Mersereau P, Hamner HC
Nutrients 2015 Apr 10;7(4):2663-86. doi: 10.3390/nu7042663. PMID: 25867949Free PMC Article
Tsang BL, Devine OJ, Cordero AM, Marchetta CM, Mulinare J, Mersereau P, Guo J, Qi YP, Berry RJ, Rosenthal J, Crider KS, Hamner HC
Am J Clin Nutr 2015 Jun;101(6):1286-94. Epub 2015 Mar 18 doi: 10.3945/ajcn.114.099994. PMID: 25788000

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