Research & Literature

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.

Newborn screening for homocystinuria.

Walter JH, Jahnke N, Remmington T

The Cochrane database of systematic reviews 2015; CD008840 doi:10.1002/14651858.CD008840.pub4.

Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency.

Sasai H, Shimozawa N, Asano T, et al.

The Tohoku journal of experimental medicine 2015; (237(4)):323-7 doi:10.1620/tjem.237.323.

Peripheral nerve involvement in classic homocystinuria: an unusual association.

Oliveira Santos M, Geraldes R, Conceição I

BMJ case reports 2016; (2016()) doi:10.1136/bcr-2016-216255.

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.

Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.

Tran C, Bonafé L, Nuoffer JM, et al.

Clinical nutrition (Edinburgh, Scotland) 2018; (37(4)):1114-1120 doi:10.1016/j.clnu.2017.07.013.

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.

Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.

Li CQ, Barshop BA, Feigenbaum A, Khanna PC

Journal of radiology case reports 2018; (12(1)):1-8 doi:10.3941/jrcr.v12i1.3207.

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.

Van Hove JLK, Freehauf CL, Ficicioglu C, et al.

Journal of inherited metabolic disease 2019; (42(3)):424-437 doi:10.1002/jimd.12085.

Short tandem repeats and methylation in the promoter region affect expression of cystathionine beta-synthase gene in the laying hen.

Zhou R, de Koning DJ, McCormack H, et al.

Gene 2019; (710()):367-374 doi:10.1016/j.gene.2019.05.049.

Serum Proteome Alterations in Human Cystathionine β-Synthase Deficiency and Ischemic Stroke Subtypes.

Sikora M, Lewandowska I, Kupc M, et al.

International journal of molecular sciences 2019; (20(12)) doi:10.3390/ijms20123096.

Hypermethioninemia in Campania: Results from 10 years of newborn screening.

Villani GRD, Albano L, Caterino M, et al.

Molecular genetics and metabolism reports 2019; (21()):100520 doi:10.1016/j.ymgmr.2019.100520.

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, et al.

Genome medicine 2020; (12(1)):13 doi:10.1186/s13073-020-0711-1.

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.

Weber Hoss GR, Sperb-Ludwig F, Schwartz IVD, Blom HJ

Molecular genetics & genomic medicine 2020; (8(6)):e1214 doi:10.1002/mgg3.1214.

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.

Metabolism of Sulfur-Containing Amino Acids: How the Body Copes with Excess Methionine, Cysteine, and Sulfide.

Stipanuk MH

The Journal of nutrition 2020; (150(Suppl 1)):2494S-2505S doi:10.1093/jn/nxaa094.

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.

Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.

Hua N, Ning Y, Zheng H, et al.

BMC ophthalmology 2021; (21(1)):212 doi:10.1186/s12886-021-01974-8.

Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.

Alsharhan H, Ahmed AA, Ali NM, et al.

International journal of neonatal screening 2021; (7(3)) doi:10.3390/ijns7030056.

Early Development of Newborn Screening for HCU and Current Challenges.

Levy HL

International journal of neonatal screening 2021; (7(4)) doi:10.3390/ijns7040067.

Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.

Wasim M, Khan HN, Ayesha H, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(3)):325-332 doi:10.1515/jpem-2021-0508.

A case series of cerebral venous thrombosis as the first manifestation of homocystinuria.

Ochoa-Ferraro A, Wanninayake S, Dawson C, et al.

European stroke journal 2021; (6(4)):420-427 doi:10.1177/23969873211059479.

Homocysteine Metabolism Pathway Is Involved in the Control of Glucose Homeostasis: A Cystathionine Beta Synthase Deficiency Study in Mouse.

Cruciani-Guglielmacci C, Meneyrol K, Denom J, et al.

Cells 2022; (11(11)) doi:10.3390/cells11111737.

Delayed diagnosis of homocystinuria presenting with coronavirus disease 2019 in a 17-year-old boy.

Yakut N, Tuzun B, Ergun NU

Revista da Sociedade Brasileira de Medicina Tropical 2022; (55()):e0143 doi:10.1590/0037-8682-0143-2022.

[Pulmonary phenotypes of inborn errors of metabolism].

Mauhin W, Brassier A, London J, et al.

Revue des maladies respiratoires 2022; (39(9)):758-777 doi:10.1016/j.rmr.2022.09.002.

Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.

Majtan T, Kožich V, Kruger WD

British journal of pharmacology 2023; (180(3)):264-278 doi:10.1111/bph.15991.

Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy.

Bittmann S, Villalon G, Moschuring-Alieva E, et al.

Journal of clinical medicine research 2023; (15(2)):76-83 doi:10.14740/jocmr4843.

Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria-A Preliminary Study.

Batycka M, Lange E, Ehmke Vel Emczyńska-Seliga E, et al.

Nutrients 2023; (15(9)) doi:10.3390/nu15092112.

Dental complications in homocystinurias.

Chapman KA, Bartke D, Vogel-Farley V, et al.

Molecular genetics and metabolism reports 2023; (36()):100999 doi:10.1016/j.ymgmr.2023.100999.

Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.

Ziegler SG, Kim J, Ehmsen JT, Vernon HJ

Disease models & mechanisms 2023; (16(11)) doi:10.1242/dmm.050233.

A refined total capsular bag suspension technique for lens subluxation from cystathionine beta-synthase deficiency: A case report and literature review.

Lu Y, Jiang Y, Wang Z

American journal of ophthalmology case reports 2024; (34()):102042 doi:10.1016/j.ajoc.2024.102042.

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.

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.

Mohamed AS, AlAnzi T, Alhashem A, et al.

JIMD reports 2025; (66(1)):e12454 doi:10.1002/jmd2.12454.

Parental Living Donor Liver Transplantation as a Solution in Medical Treatment-Resistant Cystathionine-β-Synthase Deficiency: A Single-Center Case Series.

Huang YF, Wei L, Qu W, et al.

Pediatric transplantation 2025; (29(1)):e70011 doi:10.1111/petr.70011.

High clinical burden of classical homocystinuria in the United States: a retrospective analysis.

Jain M, Shah M, Thakker KM, et al.

Orphanet journal of rare diseases 2025; (20(1)):37 doi:10.1186/s13023-025-03530-9.

Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study.

Jain M, Shah M, Thakker KM, et al.

Molecular genetics and metabolism reports 2025; (42()):101192 doi:10.1016/j.ymgmr.2025.101192.

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.

Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study.

Alzwaihri AS, Almasoudi EA, Hadrawi MT, et al.

Annals of medicine and surgery (2012) 2025; (87(5)):2602-2607 doi:10.1097/MS9.0000000000003001.

Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial.

Ficicioglu C, Thomas JA, Ganesh J, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(8)):101456 doi:10.1016/j.gim.2025.101456.

Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.

Kahraman S, Gedikbasi A, Karaca M, et al.

Pediatric research 2026; (99(4)):1458-1467 doi:10.1038/s41390-025-04383-5.

Disruption of the transsulfuration pathway by acute kidney injury causes intestinal damage.

Jin S, Wijerathne CUB, Siow YL, O K

iScience 2025; (28(10)):113511 doi:10.1016/j.isci.2025.113511.

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.