Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Quantification of Dihydroxyacetone Phosphate (DHAP) in Human Red Blood Cells by HPLC-TripleTOF 5600™ Mass Spectrometer.

Deng S, Scott D, Myers D, Garg U

Methods in molecular biology (Clifton, N.J.) 2016; (1378()):81-6 doi:10.1007/978-1-4939-3182-8_10.

Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics.

Roland BP, Zeccola AM, Larsen SB, et al.

PLoS genetics 2016; (12(3)):e1005941 doi:10.1371/journal.pgen.1005941.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Siddiq S, Wilson BJ, Graham ID, et al.

Orphanet journal of rare diseases 2016; (11(1)):168 doi:10.1186/s13023-016-0548-2.

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.

Aldubayan SH, Rodan LH, Berry GT, Levy HL

Pediatric emergency care 2017; (33(2)):142-146 doi:10.1097/PEC.0000000000001028.

In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.

Oliver C, Timson DJ

European journal of medical genetics 2017; (60(6)):289-298 doi:10.1016/j.ejmg.2017.03.008.

The liver is a metabolic and immunologic organ: A reconsideration of metabolic decompensation due to infection in inborn errors of metabolism (IEM).

Tarasenko TN, McGuire PJ

Molecular genetics and metabolism 2017; (121(4)):283-288 doi:10.1016/j.ymgme.2017.06.010.

Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency.

Conway AJ, Brown FC, Hortle EJ, et al.

Disease models & mechanisms 2018; (11(5)) doi:10.1242/dmm.034678.

Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients.

Zaninoni A, Fermo E, Vercellati C, et al.

Frontiers in physiology 2018; (9()):451 doi:10.3389/fphys.2018.00451.

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.

Häberle J, Chakrapani A, Ah Mew N, Longo N

Orphanet journal of rare diseases 2018; (13(1)):219 doi:10.1186/s13023-018-0963-7.

Inborn Errors of Metabolism: From Preconception to Adulthood.

Kruszka P, Regier D

American family physician 2019; (99(1)):25-32.

Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice.

Agana M, Frueh J, Kamboj M, et al.

Annals of translational medicine 2018; (6(24)):469 doi:10.21037/atm.2018.12.34.

Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.

Roland BP, Richards KR, Hrizo SL, et al.

Biochimica et biophysica acta. Molecular basis of disease 2019; (1865(9)):2257-2266 doi:10.1016/j.bbadis.2019.05.002.

Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.

Segal J, Mülleder M, Krüger A, et al.

Journal of inherited metabolic disease 2019; (42(5)):839-849 doi:10.1002/jimd.12105.

Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.

Fermo E, Vercellati C, Marcello AP, et al.

Frontiers in physiology 2019; (10()):467 doi:10.3389/fphys.2019.00467.

Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene.

See WQ, So CJ, Cheuk DK, et al.

Journal of pediatric hematology/oncology 2020; (42(7)):e696-e697 doi:10.1097/MPH.0000000000001582.

Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.

Gariani K, Nascimento M, Superti-Furga A, Tran C

Orphanet journal of rare diseases 2020; (15(1)):210 doi:10.1186/s13023-020-01471-z.

Identification of protein quality control regulators using a Drosophila model of TPI deficiency.

Hrizo SL, Eicher SL, Myers TD, et al.

Neurobiology of disease 2021; (152()):105299 doi:10.1016/j.nbd.2021.105299.

Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.

Balakrishnan U

Indian journal of pediatrics 2021; (88(7)):679-689 doi:10.1007/s12098-021-03759-9.

A High-Content Screening Assay for Small Molecules That Stabilize Mutant Triose Phosphate Isomerase (TPI) as Treatments for TPI Deficiency.

Vogt A, Eicher SL, Myers TD, et al.

SLAS discovery : advancing life sciences R & D 2021; (26(8)):1029-1039 doi:10.1177/24725552211018198.

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.

Fattizzo B, Giannotta JA, Cecchi N, Barcellini W

Orphanet journal of rare diseases 2021; (16(1)):415 doi:10.1186/s13023-021-02036-4.

Diagnosis and clinical management of enzymopathies.

Luzzatto L

Hematology. American Society of Hematology. Education Program 2021; (2021(1)):341-352 doi:10.1182/hematology.2021000266.

Hereditary myopathies associated with hematological abnormalities.

Beecher G, Fleming MD, Liewluck T

Muscle & nerve 2022; (65(4)):374-390 doi:10.1002/mus.27474.

Emergency management of critically ill adult patients with inherited metabolic disorders.

Sulaiman RA, Alali A, Hosaini S, et al.

The American journal of emergency medicine 2022; (55()):138-142 doi:10.1016/j.ajem.2022.02.053.

Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.

VanDemark AP, Hrizo SL, Eicher SL, et al.

Disease models & mechanisms 2022; (15(5)) doi:10.1242/dmm.049261.

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.

Tumienė B, Del Toro Riera M, Grikiniene J, et al.

Journal of multidisciplinary healthcare 2022; (15()):553-566 doi:10.2147/JMDH.S251863.

Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?

Schurek HJ, Maisel P, Helmchen U, et al.

Case reports in nephrology and dialysis 2022; (12(3)):226-233 doi:10.1159/000527330.

Newly discovered roles of triosephosphate isomerase including functions within the nucleus.

Myers TD, Palladino MJ

Molecular medicine (Cambridge, Mass.) 2023; (29(1)):18 doi:10.1186/s10020-023-00612-x.

[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis].

Julien M, Todosi C, Fouyssac F, et al.

Annales de biologie clinique 2023; (81(2)) doi:10.1684/abc.2023.1789.

Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.

Selamioğlu A, Karaca M, Balcı MC, et al.

Molecular syndromology 2023; (14(3)):231-238 doi:10.1159/000528192.

Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency.

Myers TD, Li Y, Taiclet S, et al.

Scientific reports 2024; (14(1)):18575 doi:10.1038/s41598-024-69618-7.

Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review.

Sherlock C, Clarke K, Jordan N

JIMD reports 2025; (66(2)):e70000 doi:10.1002/jmd2.70000.

TPI deficiency: A case report and review of the literature.

Williams A, Weisz-Hubshman M, Rossi V, et al.

Molecular genetics and metabolism 2025; (146(1-2)):109227 doi:10.1016/j.ymgme.2025.109227.

Challenges in the Diagnosis and Management of Triosephosphate Isomerase Deficiency: A Case Report.

Ramos C, Pereira I, Coelho J, et al.

Reports (MDPI) 2025; (8(3)) doi:10.3390/reports8030162.

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1.

Figura JR, Roberts P, Sawka R, et al.

Genes 2025; (16(10)) doi:10.3390/genes16101205.

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.

Handoom B, Alohali E, Elsagher H, et al.

Orphanet journal of rare diseases 2025; (20(1)):585 doi:10.1186/s13023-025-03949-0.

Emergency Management of Inherited Metabolic Disorders in Acute Surgical and Trauma Settings.

Furuta Y, Tinker RJ, Grochowsky AR, Phillips JA

The American surgeon 2026; (92(5)):1463-1472 doi:10.1177/00031348251403079.

Familial Dystonia Due to Homozygous TPI1 c.718G>A (p.Glu240Lys): A Three-Sibling Case Series Including Two Treated with Deep Brain Stimulation of the Globus Pallidus Internus.

Yavuz Z, Önder H, Munis ÖB, Çomoğlu SS

Annals of Indian Academy of Neurology 2026; (29(1)):87-90 doi:10.4103/aian.aian_882_25.

New treatments, novel conversations: A need to study the science of communication about treatment options for inborn errors of metabolism.

Shelkowitz E, Schrier Vergano SA, Penon-Portmann M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2026; (28(6)):102581 doi:10.1016/j.gim.2026.102581.

Examining the role of social workers within clinical metabolic genetics care.

Shim S, Cory D, Wixson G, et al.

Molecular genetics and metabolism reports 2026; (48()):101326 doi:10.1016/j.ymgmr.2026.101326.

Neurometabolic Epilepsies: A Practical Guide to Recognition, Diagnostic Workup, and Precision Treatment.

Şengenç E, Zubarioglu T, Kiykim E, Aktuğlu Zeybek Ç

Turkish archives of pediatrics 2026; (61(10)):870-885 doi:10.65717/TurkArchPediatr.2026.26401.

PHD Inhibitor Vadadustat: The First Drug Therapy for Triosephosphate Isomerase Deficiency.

Scalais E, Patel P, Satterfield S, et al.

Genes 2026; (17(10)) doi:10.3390/genes17101192.