Research & Literature

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Rips J, Almashanu S, Mandel H, et al.

Journal of inherited metabolic disease 2016; (39(2)):211-7 doi:10.1007/s10545-015-9899-4.

Qualitative urinary organic acid analysis: 10 years of quality assurance.

Peters V, Bonham JR, Hoffmann GF, et al.

Journal of inherited metabolic disease 2016; (39(5)):683-687 doi:10.1007/s10545-016-9941-1.

Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.

Cho KL, Kim YJ, Yang SH, et al.

Korean journal of pediatrics 2016; (59(Suppl 1)):S41-S44 doi:10.3345/kjp.2016.59.11.S41.

Next generation sequencing as a follow-up test in an expanded newborn screening programme.

Smon A, Repic Lampret B, Groselj U, et al.

Clinical biochemistry 2018; (52()):48-55 doi:10.1016/j.clinbiochem.2017.10.016.

Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.

Cozzolino C, Villani GR, Frisso G, et al.

Genetics and molecular biology 2018; (41(2)):379-385 doi:10.1590/1678-4685-GMB-2017-0093.

Difficulties in the dietary management of a girl with two diseases requiring a special diet.

Kowalik A, Gajewska D, Sykut-Cegielska J

Developmental period medicine 2018; (22(3)):225-228.

3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?

Wang H, Liu S, Wang B, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(12)):1321-1326.

Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.

Fatima S, Aamir M, Bibi A

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2021; (31(1)):95-97 doi:10.29271/jcpsp.2021.01.95.

Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.

Shigematsu Y, Yuasa M, Ishige N, et al.

International journal of neonatal screening 2021; (7(3)) doi:10.3390/ijns7030044.

Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency.

Şahin S, Yıldırım M, Bektaş Ö, et al.

Molecular syndromology 2021; (12(6)):393-398 doi:10.1159/000517272.

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.

Cheng Y, Chen P, Yu Z, et al.

Clinica chimica acta; international journal of clinical chemistry 2023; (542()):117266 doi:10.1016/j.cca.2023.117266.

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening.

Tin O, Zübarioğlu T, Cansever MŞ, et al.

Turkish archives of pediatrics 2023; (58(4)):382-387 doi:10.5152/TurkArchPediatr.2023.23009.

A Unique Presentation of 3-Methylcrotonyl-CoA Carboxylase Deficiency.

Jagadish A, Sclater K, Lapinski T, et al.

Cureus 2023; (15(5)):e39401 doi:10.7759/cureus.39401.

A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns.

Onuki T, Hiroshima S, Sawano K, et al.

Children (Basel, Switzerland) 2023; (10(8)) doi:10.3390/children10081341.

The cryo-EM structure of trypanosome 3-methylcrotonyl-CoA carboxylase provides mechanistic and dynamic insights into its enzymatic function.

Plaza-Pegueroles A, Aphasizheva I, Aphasizhev R, et al.

Structure (London, England : 1993) 2024; (32(7)):930-940.e3 doi:10.1016/j.str.2024.03.010.

An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test.

Terracciano R, Ruoppolo M, Barretta F, et al.

Molecular genetics and metabolism reports 2024; (40()):101116 doi:10.1016/j.ymgmr.2024.101116.

Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China.

Lin W, Wang K, Chen Y, et al.

Molecular genetics and metabolism reports 2024; (40()):101127 doi:10.1016/j.ymgmr.2024.101127.

An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency.

McGowan R, Yano S

Molecular genetics and metabolism reports 2024; (41()):101138 doi:10.1016/j.ymgmr.2024.101138.

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach.

Gulzar MM, Sarani ZA, Tariq M, Knerr I

BMJ case reports 2025; (18(7)) doi:10.1136/bcr-2024-262865.

Beyond newborn screening: the role of reverse cascade testing in familial disease detection.

Gaviglio A, Petritis K, Tagi V, et al.

Critical reviews in clinical laboratory sciences 2025; 1-11 doi:10.1080/10408363.2025.2527288.

Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience.

Gragnaniello V, Gaiga G, Cazzorla C, et al.

International journal of neonatal screening 2025; (11(4)) doi:10.3390/ijns11040115.

Substrate-enhanced filamentation of 3-methylcrotonyl-CoA carboxylase in Legionella pneumophila.

Somarathne RP, Shrestha R, Zehra M, et al.

bioRxiv : the preprint server for biology 2025; doi:10.64898/2025.12.22.694428.