Research & Literature

Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.

Ruiz-Mercado M, Vargas MT, de Soto IP, et al.

Hematology (Amsterdam, Netherlands) 2016; (21(3)):193-7 doi:10.1179/1607845415Y.0000000017.

Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.

Eslamiyeh H, Ashrafzadeh F, Akhondian J, Beiraghi Toosi M

Iranian journal of child neurology 2015; (9(2)):53-7.

Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.

Gupta S, Wang L, Kruger WD

Journal of inherited metabolic disease 2016; (39(1)):39-46 doi:10.1007/s10545-015-9883-z.

Low bone mineral density is a common finding in patients with homocystinuria.

Weber DR, Coughlin C, Brodsky JL, et al.

Molecular genetics and metabolism 2016; (117(3)):351-4.

Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.

Sørensen JT, Gaustadnes M, Stabler SP, et al.

Molecular genetics and metabolism 2016; (117(3)):344-50.

Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

Knowles L, Morris AA, Walter JH

JIMD reports 2016; (29()):103-107 doi:10.1007/8904_2016_529.

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.

Couser NL, McClure J, Evans MW, et al.

Ophthalmic genetics 2017; (38(1)):91-94 doi:10.3109/13816810.2016.1143017.

Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.

Okun JG, Gan-Schreier H, Ben-Omran T, et al.

JIMD reports 2017; (32()):87-94 doi:10.1007/8904_2016_556.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, et al.

Journal of inherited metabolic disease 2017; (40(1)):49-74 doi:10.1007/s10545-016-9979-0.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Huemer M, Diodato D, Schwahn B, et al.

Journal of inherited metabolic disease 2017; (40(1)):21-48 doi:10.1007/s10545-016-9991-4.

Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

Gramer G, Abdoh G, Ben-Omran T, et al.

World journal of pediatrics : WJP 2017; (13(2)):136-143 doi:10.1007/s12519-017-0003-z.

Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.

Stabler SP, Freehauf C, Allen RH, et al.

JIMD reports 2017; (37()):55-61 doi:10.1007/8904_2017_15.

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.

Majtan T, Pey AL, Gimenez-Mascarell P, et al.

Handbook of experimental pharmacology 2018; (245()):345-383 doi:10.1007/164_2017_72.

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Poloni S, Sperb-Ludwig F, Borsatto T, et al.

Molecular genetics & genomic medicine 2018; (6(2)):160-170 doi:10.1002/mgg3.342.

Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.

Li DX, Li XY, Dong H, et al.

World journal of pediatrics : WJP 2018; (14(2)):197-203 doi:10.1007/s12519-018-0135-9.

Reversible Cerebral White Matter Abnormalities in Homocystinuria.

Ismayilova N, MacKinnon AD, Mundy H, Fallon P

JIMD reports 2019; (44()):115-119 doi:10.1007/8904_2018_135.

Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report.

Shang K, Li H, Luo X

Medicine 2019; (98(6)):e14349 doi:10.1097/MD.0000000000014349.

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Keller R, Chrastina P, Pavlíková M, et al.

Journal of inherited metabolic disease 2019; (42(1)):128-139 doi:10.1002/jimd.12034.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, et al.

Journal of inherited metabolic disease 2019; (42(2)):333-352 doi:10.1002/jimd.12041.

Vitamin B-12 and liver activity and expression of methionine synthase are decreased in fetuses with neural tube defects.

Fofou-Caillierez MB, Guéant-Rodriguez RM, Alberto JM, et al.

The American journal of clinical nutrition 2019; (109(3)):674-683 doi:10.1093/ajcn/nqy340.

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Valayannopoulos V, Schiff M, Guffon N, et al.

Orphanet journal of rare diseases 2019; (14(1)):66 doi:10.1186/s13023-019-1036-2.

Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland.

Allen J, Power B, Abedin A, et al.

JIMD reports 2019; (47(1)):41-46 doi:10.1002/jmd2.12029.

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.

Kasapkara ÇS, Yılmaz-Keskin E, Özbay-Hoşnut F, et al.

The Turkish journal of pediatrics 2019; (61(2)):282-285.

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

Schwahn BC, Scheffner T, Stepman H, et al.

JIMD reports 2020; (52(1)):3-10 doi:10.1002/jmd2.12092.

Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.

Weiss KJ, Röschinger W, Blessing H, et al.

Annals of nutrition & metabolism 2020; (76(4)):268-276 doi:10.1159/000508838.

A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.

Ames EG, Scott AJ, Pappas KB, et al.

American journal of medical genetics. Part A 2020; (182(11)):2704-2708 doi:10.1002/ajmg.a.61815.

Ocular manifestations in classic homocystinuria.

Gus PI, Donis KC, Marinho D, et al.

Ophthalmic genetics 2021; (42(1)):71-74 doi:10.1080/13816810.2020.1821384.

Seven novel genetic variants in a North Indian cohort with classical homocystinuria.

Kaur R, Attri SV, Saini AG, et al.

Scientific reports 2020; (10(1)):17299 doi:10.1038/s41598-020-73475-5.

Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.

Marelli C, Lavigne C, Stepien KM, et al.

Journal of inherited metabolic disease 2021; (44(3)):777-786 doi:10.1002/jimd.12323.

When to measure plasma homocysteine and how to place it in context: The homocystinurias.

Huemer M

Journal of mother and child 2020; (24(2)):39-46 doi:10.34763/jmotherandchild.20202402si.2016.000007.

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Kožich V, Sokolová J, Morris AAM, et al.

Journal of inherited metabolic disease 2021; (44(3)):677-692 doi:10.1002/jimd.12338.

Proteomic exploration of cystathionine β-synthase deficiency: implications for the clinic.

Jakubowski H

Expert review of proteomics 2020; (17(10)):751-765 doi:10.1080/14789450.2020.1865160.

Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.

Morrison T, Bösch F, Landolt MA, et al.

Orphanet journal of rare diseases 2021; (16(1)):124 doi:10.1186/s13023-021-01764-x.

Redox-Linked Coordination Chemistry Directs Vitamin B12 Trafficking.

Banerjee R, Gouda H, Pillay S

Accounts of chemical research 2021; (54(8)):2003-2013 doi:10.1021/acs.accounts.1c00083.

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.

Lotz-Havla AS, Weiß KJ, Schiergens KA, et al.

Orphanet journal of rare diseases 2021; (16(1)):215 doi:10.1186/s13023-021-01847-9.

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.

Kagawa R, Tajima G, Maeda T, et al.

International journal of neonatal screening 2021; (7(3)) doi:10.3390/ijns7030039.

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.

Asamoah A, Wei S, Jackson KE, et al.

International journal of neonatal screening 2021; (7(3)) doi:10.3390/ijns7030048.

The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.

Hart C, McNulty J, Cotter M, et al.

JIMD reports 2021; (61(1)):34-41 doi:10.1002/jmd2.12233.

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.

Kripps KA, Sremba L, Larson AA, et al.

Journal of inherited metabolic disease 2022; (45(2)):157-168 doi:10.1002/jimd.12448.

High Myopia: A Pointer of an Inborn Error of Metabolism.

Sahu SK, Behera JR, Kr J, et al.

Cureus 2022; (14(1)):e20930 doi:10.7759/cureus.20930.

Inherited defects of cobalamin metabolism.

Watkins D, Rosenblatt DS

Vitamins and hormones 2022; (119()):355-376 doi:10.1016/bs.vh.2022.01.010.

Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.

Padmanabha H, Mahale R, Christopher R, et al.

Annals of Indian Academy of Neurology 2021; (24(6)):908-916 doi:10.4103/aian.AIAN_223_21.

Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.

Yverneau M, Leroux S, Imbard A, et al.

Journal of inherited metabolic disease 2022; (45(4)):848-861 doi:10.1002/jimd.12504.

Homocystinuria diagnosis and management: it is not all classical.

Gerrard A, Dawson C

Journal of clinical pathology 2022; doi:10.1136/jcp-2021-208029.

Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics.

Reischl-Hajiabadi AT, Garbade SF, Feyh P, et al.

Nutrients 2022; (14(18)) doi:10.3390/nu14183767.

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.

Imbard A, Toumazi A, Magréault S, et al.

Orphanet journal of rare diseases 2022; (17(1)):417 doi:10.1186/s13023-022-02567-4.

A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency.

Uygur E, Aktuglu-Zeybek C, Aghalarov M, et al.

Nutrients 2023; (15(14)) doi:10.3390/nu15143105.

Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.

Averdunk L, Thimm E, Klee D, et al.

Journal of inherited metabolic disease 2023; (46(6)):1206-1208 doi:10.1002/jimd.12680.

Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center.

Padeira G, Jacinto S, Ribeirinho A, Ferreira AC

Endocrine, metabolic & immune disorders drug targets 2023; doi:10.2174/0118715303272253231004094018.

[Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency].

Zhang HT, Ma X, Jin Y, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2024; (62(4)):357-362 doi:10.3760/cma.j.cn112140-20230919-00200.

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Reischl-Hajiabadi AT, Schnabel E, Gleich F, et al.

Journal of inherited metabolic disease 2024; (47(4)):674-689 doi:10.1002/jimd.12731.

Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

Nguyen A, Deshayes S, Nowoczyn M, et al.

JIMD reports 2024; (65(3)):163-170 doi:10.1002/jmd2.12422.

Clinical, biochemical, molecular characteristics and clinical outcome of hyperhomocysteinemia in Malaysian children.

Habib A, Idrus H, Malik NAA, et al.

Clinical biochemistry 2024; (133-134()):110828 doi:10.1016/j.clinbiochem.2024.110828.

Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review.

Yin Q, Yuan T, Ma J, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2024; (49(8)):1363-1374 doi:10.11817/j.issn.1672-7347.2024.240214.

Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment.

Morris AAM, Sokolová J, Pavlíková M, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12844 doi:10.1002/jimd.12844.

A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre.

Al-Tai MR, Kareem AA, Saadi NW, et al.

Molecular genetics and metabolism reports 2025; (43()):101217 doi:10.1016/j.ymgmr.2025.101217.

Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.

Qu R, Han A, Zhao Y, et al.

Frontiers in neurology 2025; (16()):1588273 doi:10.3389/fneur.2025.1588273.

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.

Sultan R, Urlacher J, Athey T, et al.

Molecular genetics and metabolism reports 2025; (45()):101261 doi:10.1016/j.ymgmr.2025.101261.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Olivieri G, Bordugo A, Burnyte B, et al.

Journal of inherited metabolic disease 2026; (49(4)):e70177 doi:10.1002/jimd.70177.

Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result.

González de Aledo-Castillo JM, Casado-Río M, Pajares S, et al.

International journal of neonatal screening 2026; (12(3)) doi:10.3390/ijns12030073.