Research & Literature

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Grünert SC, Wendel U, Lindner M, et al.

Orphanet journal of rare diseases 2012; (7()):9 doi:10.1186/1750-1172-7-9.

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.

Valayannopoulos V, Baruteau J, Delgado MB, et al.

Orphanet journal of rare diseases 2016; (11()):32 doi:10.1186/s13023-016-0406-2.

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

Couce ML, Aldamiz-Echevarría L, Bueno MA, et al.

Journal of human genetics 2017; (62(3)):355-360 doi:10.1038/jhg.2016.144.

Dietary practices in isovaleric acidemia: A European survey.

Pinto A, Daly A, Evans S, et al.

Molecular genetics and metabolism reports 2017; (12()):16-22 doi:10.1016/j.ymgmr.2017.02.001.

Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening.

Carling RS, Burden D, Hutton I, et al.

JIMD reports 2018; (38()):75-80 doi:10.1007/8904_2017_33.

Selective and accurate C5 acylcarnitine quantitation by UHPLC-MS/MS: Distinguishing true isovaleric acidemia from pivalate derived interference.

Minkler PE, Stoll MSK, Ingalls ST, Hoppel CL

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2017; (1061-1062()):128-133 doi:10.1016/j.jchromb.2017.07.018.

Hypocarnitinemia Observed in an Infant Treated with Short-Term Administration of Antibiotic Containing Pivalic Acid.

Nakazaki K, Ogawa E, Ishige M, et al.

The Tohoku journal of experimental medicine 2018; (244(4)):279-282 doi:10.1620/tjem.244.279.

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

David J, Chrastina P, Pešková K, et al.

Central European journal of public health 2019; (27(2)):153-159 doi:10.21101/cejph.a5441.

Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia.

Ibarra-González I, Fernández-Lainez C, Guillén-López S, et al.

Clinica chimica acta; international journal of clinical chemistry 2020; (501()):216-221 doi:10.1016/j.cca.2019.10.041.

Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism.

Khan A, Zahid B, Khan S, Ahmad SA

Cureus 2020; (12(2)):e7150 doi:10.7759/cureus.7150.

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.

Szymańska E, Jezela-Stanek A, Bogdańska A, et al.

Diagnostics (Basel, Switzerland) 2020; (10(10)) doi:10.3390/diagnostics10100738.

Aspects of Newborn Screening in Isovaleric Acidemia.

Schlune A, Riederer A, Mayatepek E, Ensenauer R

International journal of neonatal screening 2018; (4(1)):7 doi:10.3390/ijns4010007.

[Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].

Hu Z, Yang J, Hu L, et al.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2020; (49(5)):556-564 doi:10.3785/j.issn.1008-9292.2020.10.02.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.

Mütze U, Henze L, Gleich F, et al.

Journal of inherited metabolic disease 2021; (44(4)):857-870 doi:10.1002/jimd.12364.

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.

D'Annibale OM, Koppes EA, Alodaib AN, et al.

Molecular genetics and metabolism 2021; (134(1-2)):29-36 doi:10.1016/j.ymgme.2021.08.012.

A Simple Flow Injection Analysis-Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions.

Hattori T, Notsu Y, Tanaka M, et al.

Children (Basel, Switzerland) 2022; (9(5)) doi:10.3390/children9050694.

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.

Tsai AC, Lin HT, Chou M, et al.

Molecular genetics and metabolism reports 2022; (31()):100859 doi:10.1016/j.ymgmr.2022.100859.

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.

Ding S, Liang L, Qiu W, et al.

Frontiers in genetics 2022; (13()):898860 doi:10.3389/fgene.2022.898860.

Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review.

Liu X, Liu X, Fan W, et al.

Frontiers in neurology 2022; (13()):928334 doi:10.3389/fneur.2022.928334.

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany.

Murko S, Aseman AD, Reinhardt F, et al.

JIMD reports 2023; (64(1)):114-120 doi:10.1002/jmd2.12345.

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.

Mütze U, Henze L, Schröter J, et al.

Journal of inherited metabolic disease 2023; (46(6)):1063-1077 doi:10.1002/jimd.12653.

Isovaleric Acidemia in Jordan.

Megdadi N, Alakil M, Ghanmiyin L, et al.

Cureus 2024; (16(1)):e52039 doi:10.7759/cureus.52039.

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

Rock R, Rock O, Daas S, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12800 doi:10.1002/jimd.12800.

Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.

Reischl-Hajiabadi AT, Garbade SF, Gleich F, et al.

Journal of inherited metabolic disease 2025; (48(6)):e70090 doi:10.1002/jimd.70090.

Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.

Thimm E, Riederer A, Vockley J, et al.

International journal of neonatal screening 2025; (11(4)) doi:10.3390/ijns11040092.

Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience.

Özsaydi Aktaşoğlu E, Akyüz A, Gökalp S, et al.

BMC pediatrics 2026; (26(1)).