Research & Literature

Glutaric aciduria type 1: neuroimaging features with clinical correlation.

Mohammad SA, Abdelkhalek HS, Ahmed KA, Zaki OK

Pediatric radiology 2015; (45(11)):1696-705 doi:10.1007/s00247-015-3395-8.

Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.

Vester ME, Bilo RA, Karst WA, et al.

Forensic science, medicine, and pathology 2015; (11(3)):405-15 doi:10.1007/s12024-015-9698-0.

[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].

Wang Q, Yang YL

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2016; (18(5)):460-5.

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.

Vester ME, Visser G, Wijburg FA, et al.

European journal of pediatrics 2016; (175(7)):1001-6 doi:10.1007/s00431-016-2734-6.

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Schillaci LA, Greene CL, Strovel E, et al.

Molecular genetics and metabolism 2016; (119(1-2)):50-6.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Boy N, Mühlhausen C, Maier EM, et al.

Journal of inherited metabolic disease 2017; (40(1)):75-101 doi:10.1007/s10545-016-9999-9.

Reversible brain atrophy in glutaric aciduria type 1.

Numata-Uematsu Y, Sakamoto O, Kakisaka Y, et al.

Brain & development 2017; (39(6)):532-535 doi:10.1016/j.braindev.2017.01.003.

Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.

Biagosch C, Ediga RD, Hensler SV, et al.

Biochimica et biophysica acta. Molecular basis of disease 2017; (1863(9)):2220-2228 doi:10.1016/j.bbadis.2017.05.018.

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.

du Moulin M, Thies B, Blohm M, et al.

JIMD reports 2018; (39()):25-30 doi:10.1007/8904_2017_44.

Impairment of astrocytic glutaminolysis in glutaric aciduria type I.

Komatsuzaki S, Ediga RD, Okun JG, et al.

Journal of inherited metabolic disease 2018; (41(1)):91-99 doi:10.1007/s10545-017-0096-5.

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.

Stepien KM, Pastores GM, Hendroff U, et al.

JIMD reports 2018; (41()):29-36 doi:10.1007/8904_2017_81.

Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene.

Peng HH, Shaw SW, Huang KG

Taiwanese journal of obstetrics & gynecology 2018; (57(1)):137-140 doi:10.1016/j.tjog.2017.12.023.

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Boy N, Mengler K, Thimm E, et al.

Annals of neurology 2018; (83(5)):970-979 doi:10.1002/ana.25233.

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1.

Boy N, Garbade SF, Heringer J, et al.

Journal of inherited metabolic disease 2018; doi:10.1007/s10545-018-0187-y.

Anesthetic Management for Fracture Head of Radius in a Child with Glutaric Aciduria type-1.

Mehta N, Kaur G

Anesthesia, essays and researches 2018; (12(2)):601-603 doi:10.4103/aer.AER_34_18.

Glutaric Aciduria Type 1 with Microcephaly: Masquerading as Spastic Cerebral Palsy.

Sharawat IK, Dawman L

Journal of pediatric neurosciences 2018; (13(3)):349-351 doi:10.4103/JPN.JPN_79_17.

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

Pokora P, Jezela-Stanek A, Różdżyńska-Świątkowska A, et al.

Metabolic brain disease 2019; (34(2)):641-649 doi:10.1007/s11011-018-0357-5.

Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases.

Ghatan S, Kokoszka MA, Ranney AM, Strauss KA

Movement disorders clinical practice 2016; (3(3)):296-299 doi:10.1002/mdc3.12278.

Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1.

Boy N, Garbade SF, Heringer J, et al.

Journal of inherited metabolic disease 2019; (42(1)):117-127 doi:10.1002/jimd.12033.

Pathogenesis of brain damage in glutaric acidemia type I: Lessons from the genetic mice model.

Wajner M, Amaral AU, Leipnitz G, Seminotti B

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019; (78()):215-221 doi:10.1016/j.ijdevneu.2019.05.005.

l-Carnitine prevents oxidative stress in striatum of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload.

Guerreiro G, Amaral AU, Ribeiro RT, et al.

Biochimica et biophysica acta. Molecular basis of disease 2019; (1865(9)):2420-2427 doi:10.1016/j.bbadis.2019.06.007.

Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?

Shaik M, T P KV, Kamate M, A B V

Indian journal of pediatrics 2019; (86(11)):995-1001 doi:10.1007/s12098-019-03017-z.

Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.

Ribeiro JV, Lucas TG, Bross P, et al.

Biochimica et biophysica acta. Proteins and proteomics 2020; (1868(1)):140269 doi:10.1016/j.bbapap.2019.140269.

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico.

Campos-Garcia FJ, Chacon-Camacho OF, Contreras-Capetillo S, et al.

Molecular genetics and metabolism reports 2019; (21()):100533 doi:10.1016/j.ymgmr.2019.100533.

Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.

Gelener P, Severino M, Diker S, et al.

Neurogenetics 2020; (21(3)):179-186 doi:10.1007/s10048-020-00610-9.

Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis.

Boy N, Mengler K, Heringer-Seifert J, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(1)):13-21 doi:10.1038/s41436-020-00971-4.

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.

Strauss KA, Williams KB, Carson VJ, et al.

Molecular genetics and metabolism 2020; (131(3)):325-340 doi:10.1016/j.ymgme.2020.09.007.

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.

Bernstein L, Coughlin CR, Drumm M, et al.

Nutrients 2020; (12(10)) doi:10.3390/nu12103162.

Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.

Märtner EMC, Maier EM, Mengler K, et al.

Journal of inherited metabolic disease 2021; (44(3)):629-638 doi:10.1002/jimd.12335.

Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980-2020.

Mhanni A, Aylward N, Boy N, et al.

Molecular genetics and metabolism reports 2020; (25()):100666 doi:10.1016/j.ymgmr.2020.100666.

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.

Bekiesinska-Figatowska M, Duczkowski M, Duczkowska A, et al.

BMC pediatrics 2021; (21(1)):146 doi:10.1186/s12887-021-02603-5.

Protective effects of L-carnitine on behavioral alterations and neuroinflammation in striatum of glutaryl-COA dehydrogenase deficient mice.

Guerreiro G, Faverzani J, Moura AP, et al.

Archives of biochemistry and biophysics 2021; (709()):108970 doi:10.1016/j.abb.2021.108970.

Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1.

Ntorkou AA, Daire J, Renaldo F, et al.

AJNR. American journal of neuroradiology 2021; (42(9)):1722-1726 doi:10.3174/ajnr.A7199.

Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I.

Huang L, Shi T, Li Y, Li X

Nephron 2021; (145(6)):770-775 doi:10.1159/000515012.

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.

Guenzel AJ, Hall PL, Scott AI, et al.

JIMD reports 2021; (60(1)):67-74 doi:10.1002/jmd2.12217.

Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening.

Boy N, Mohr A, Garbade SF, et al.

Journal of inherited metabolic disease 2021; (44(6)):1343-1352 doi:10.1002/jimd.12436.

COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1.

Zubarioglu T, Ahmadzada S, Yalcinkaya C, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(12)):1611-1614 doi:10.1515/jpem-2021-0474.

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.

Märtner EMC, Thimm E, Guder P, et al.

Scientific reports 2021; (11(1)):19300 doi:10.1038/s41598-021-98809-9.

A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.

Gonzalez Melo M, Fontana AO, Viertl D, et al.

Molecular genetics and metabolism 2021; (134(4)):287-300 doi:10.1016/j.ymgme.2021.10.003.

Deglutarylation of glutaryl-CoA dehydrogenase by deacylating enzyme SIRT5 promotes lysine oxidation in mice.

Bhatt DP, Mills CA, Anderson KA, et al.

The Journal of biological chemistry 2022; (298(4)):101723 doi:10.1016/j.jbc.2022.101723.

Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.

Lin Y, Zhu X, Zhang C, et al.

Clinica chimica acta; international journal of clinical chemistry 2022; (530()):113-118 doi:10.1016/j.cca.2022.03.026.

Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.

Healy L, O'Shea M, McNulty J, et al.

JIMD reports 2022; (63(4)):379-387 doi:10.1002/jmd2.12302.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Boy N, Mühlhausen C, Maier EM, et al.

Journal of inherited metabolic disease 2023; (46(3)):482-519 doi:10.1002/jimd.12566.

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.

Yuan Y, Dimitrov B, Boy N, et al.

Journal of inherited metabolic disease 2023; (46(3)):391-405 doi:10.1002/jimd.12618.

The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?

Singanamalla B, Paria P, Suthar R, et al.

Journal of pediatric genetics 2023; (12(2)):175-178 doi:10.1055/s-0041-1739288.

Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging.

Bian B, Liu Z, Feng D, et al.

AJNR. American journal of neuroradiology 2023; (44(8)):967-973 doi:10.3174/ajnr.A7928.

Update current understanding of neurometabolic disorders related to lysine metabolism.

Chang FM

Epilepsy & behavior : E&B 2023; (146()):109363 doi:10.1016/j.yebeh.2023.109363.

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.

Barroso M, Gertzen M, Puchwein-Schwepcke AF, et al.

International journal of molecular sciences 2023; (24(17)) doi:10.3390/ijms241713158.

Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort.

Pinto PL, Câmara B, Florindo C, et al.

Endocrine, metabolic & immune disorders drug targets 2023; doi:10.2174/1871530323666230914122946.

Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias.

Elola Pastor AI, Prieto García B, Díaz Martín JJ

Anales de pediatria 2024; (100(5)):318-324 doi:10.1016/j.anpede.2024.04.011.

Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings.

Regmi PR, Yadav AK, Koirala B, et al.

Radiology case reports 2024; (19(9)):3701-3704 doi:10.1016/j.radcr.2024.05.040.

Glutaric Aciduria Presenting With an Acute Encephalitic Crisis: A Case Report.

Patil MG, Tyagi N, Avuthu OPR, Salunkhe S

Cureus 2024; (16(7)):e65722 doi:10.7759/cureus.65722.

Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1.

Cyr D, Boutin M, Maranda B, Waters PJ

JIMD reports 2024; (65(6)):433-441 doi:10.1002/jmd2.12447.

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Yoldas Celik M, Canda E, Yazici H, et al.

European journal of pediatrics 2024; (184(1)):72 doi:10.1007/s00431-024-05907-7.

Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1.

Lumsden DE, Tsagkaris S, Cleary J, et al.

Journal of neurology 2025; (272(3)):234 doi:10.1007/s00415-025-12942-3.

Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia.

Miyata Y, Murayama K, Okazaki Y, et al.

Brain & development 2025; (47(4)):104380 doi:10.1016/j.braindev.2025.104380.

Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management.

Marques L, Lipari Pinto P, Loureiro Cadilha H, et al.

Acta medica portuguesa 2025; (38(8)):496-501 doi:10.20344/amp.23093.