Research & Literature

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Cazorla AG, et al.

Journal of inherited metabolic disease 2015; (38(6)):1041-57 doi:10.1007/s10545-015-9839-3.

Methylmalonic Acidemia.

Mahmud S, Awais Ul Hassan Shah S, Ali S

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2015; (25(6)):462-4 doi:06.2015/JCPSP.462464.

Optic neuropathy in methylmalonic acidemia and propionic acidemia.

Martinez Alvarez L, Jameson E, Parry NR, et al.

The British journal of ophthalmology 2016; (100(1)):98-104 doi:10.1136/bjophthalmol-2015-306798.

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

Manoli I, Myles JG, Sloan JL, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2016; (18(4)):386-95 doi:10.1038/gim.2015.102.

Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis.

Dejkhamron P, Wejapikul K, Unachak K, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(3)):373-8.

N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria.

Yap S, Leong HY, Abdul Aziz F, et al.

Neonatology 2016; (109(4)):303-7 doi:10.1159/000443630.

Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.

Hannibal L, Lysne V, Bjørke-Monsen AL, et al.

Frontiers in molecular biosciences 2016; (3()):27 doi:10.3389/fmolb.2016.00027.

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.

Waters PJ, Thuriot F, Clarke JT, et al.

Molecular genetics and metabolism reports 2016; (9()):19-24 doi:10.1016/j.ymgmr.2016.09.001.

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.

Abily-Donval L, Torre S, Samson A, et al.

International journal of molecular sciences 2017; (18(11)) doi:10.3390/ijms18112294.

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

Heuberger K, Bailey HJ, Burda P, et al.

Biochimica et biophysica acta. Molecular basis of disease 2019; (1865(6)):1265-1272 doi:10.1016/j.bbadis.2019.01.021.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

Molema F, Gleich F, Burgard P, et al.

Journal of inherited metabolic disease 2019; (42(6)):1162-1175 doi:10.1002/jimd.12066.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Molema F, Gleich F, Burgard P, et al.

Molecular genetics and metabolism 2019; (126(4)):397-405 doi:10.1016/j.ymgme.2019.02.003.

Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.

Almási T, Guey LT, Lukacs C, et al.

Orphanet journal of rare diseases 2019; (14(1)):84 doi:10.1186/s13023-019-1063-z.

MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid.

Andréasson M, Zetterström RH, von Döbeln U, et al.

International journal of molecular sciences 2019; (20(11)) doi:10.3390/ijms20112631.

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.

Nashabat M, Obaid A, Al Mutairi F, et al.

BMC pediatrics 2019; (19(1)):195 doi:10.1186/s12887-019-1571-y.

Optic neuropathy in classical methylmalonic acidemia.

AlOwain M, Khalifa OA, Al Sahlawi Z, et al.

Ophthalmic genetics 2019; (40(4)):313-322 doi:10.1080/13816810.2019.1634740.

Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.

Han B, Nie W, Sun M, et al.

Pediatrics and neonatology 2020; (61(2)):148-154 doi:10.1016/j.pedneo.2019.07.004.

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Pillai NR, Stroup BM, Poliner A, et al.

Molecular genetics and metabolism 2019; (128(4)):431-443 doi:10.1016/j.ymgme.2019.11.001.

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.

Lucienne M, Aguilar-Pimentel JA, Amarie OV, et al.

Biochimica et biophysica acta. Molecular basis of disease 2020; (1866(3)):165622 doi:10.1016/j.bbadis.2019.165622.

Dietary practices in methylmalonic acidaemia: a European survey.

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

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(1)):147-155 doi:10.1515/jpem-2019-0277.

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.

Habibzadeh P, Tabatabaei Z, Farazi Fard MA, et al.

BMC medical genetics 2020; (21(1)):22 doi:10.1186/s12881-020-0959-8.

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.

Rossi C, Cicalini I, Rizzo C, et al.

International journal of environmental research and public health 2020; (17(10)) doi:10.3390/ijerph17103601.

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Hörster F, Tuncel AT, Gleich F, et al.

Journal of inherited metabolic disease 2021; (44(1)):193-214 doi:10.1002/jimd.12297.

Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia.

Siegel C, Arnon R, Florman S, et al.

Nutrients 2020; (12(10)) doi:10.3390/nu12102976.

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

Şeker Yılmaz B, Kor D, Bulut FD, et al.

Turkish journal of medical sciences 2021; (51(3)):1220-1228 doi:10.3906/sag-2001-72.

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria.

Kowalik A, MacDonald A, Sykut-Cegielska J

Medicina (Kaunas, Lithuania) 2021; (57(2)) doi:10.3390/medicina57020128.

Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (Mut-ko/ki) of methylmalonic aciduria.

Lucienne M, Mathis D, Perkins N, et al.

JIMD reports 2021; (58(1)):44-51 doi:10.1002/jmd2.12182.

A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.

Armstrong AJ, Collado MS, Henke BR, et al.

Molecular genetics and metabolism 2021; (133(1)):71-82 doi:10.1016/j.ymgme.2021.03.001.

Vitamin B12 status in health and disease: a critical review. Diagnosis of deficiency and insufficiency - clinical and laboratory pitfalls.

Sobczyńska-Malefora A, Delvin E, McCaddon A, et al.

Critical reviews in clinical laboratory sciences 2021; (58(6)):399-429 doi:10.1080/10408363.2021.1885339.

Long-term renal outcome in methylmalonic acidemia in adolescents and adults.

Dao M, Arnoux JB, Bienaimé F, et al.

Orphanet journal of rare diseases 2021; (16(1)):220 doi:10.1186/s13023-021-01851-z.

Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia.

He W, Wang Y, Xie EJ, et al.

Molecular genetics and metabolism 2021; (134(3)):257-266 doi:10.1016/j.ymgme.2021.09.009.

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.

Yu Y, Shuai R, Liang L, et al.

Molecular genetics & genomic medicine 2021; (9(11)):e1822 doi:10.1002/mgg3.1822.

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.

Brennerová K, Škopková M, Ostrožlíková M, et al.

BMC pediatrics 2021; (21(1)):578 doi:10.1186/s12887-021-03067-3.

Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.

Stanescu S, Belanger-Quintana A, Fernandez-Felix BM, et al.

Amino acids 2022; (54(5)):777-786 doi:10.1007/s00726-022-03128-6.

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.

Inherited defects of cobalamin metabolism.

Watkins D, Rosenblatt DS

Vitamins and hormones 2022; (119()):355-376 doi:10.1016/bs.vh.2022.01.010.

Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.

Waisbren SE

Metabolic brain disease 2022; (37(5)):1317-1335 doi:10.1007/s11011-022-00954-1.

Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.

Yazıcı H, Canda E, Onay H, et al.

The Turkish journal of pediatrics 2022; (64(5)):946-950.

Postpyloric nutrition to prevent emergencies - a step away from repeat inpatient care in children with methylmalonic acidaemia and propionic acidaemia - a case report of four cases.

Schumann S, Rommel FR, Cantez S, et al.

Frontiers in pediatrics 2023; (11()):1078425 doi:10.3389/fped.2023.1078425.

Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects.

Köpfer F, Garbade SF, Klingbeil K, et al.

Journal of inherited metabolic disease 2023; (46(6)):1078-1088 doi:10.1002/jimd.12672.

Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features.

Diogo R, Rua IB, Ferreira S, et al.

Cureus 2023; (15(10)):e48017 doi:10.7759/cureus.48017.

Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.

Yap S, Lamireau D, Feillet F, et al.

Drugs in R&D 2024; (24(1)):69-80 doi:10.1007/s40268-023-00449-z.

Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia.

Hakimzadeh Z, Gilani A, Yousefichaijan P, Sarmadian R

Journal of medical case reports 2024; (18(1)):73 doi:10.1186/s13256-024-04406-5.

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.

Maines E, Franceschi R, Rivieri F, et al.

International journal of neonatal screening 2024; (10(3)) doi:10.3390/ijns10030053.

Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ).

Sikirica V, Schwartz EJ, Vockley J, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108577 doi:10.1016/j.ymgme.2024.108577.

General Anesthesia for a Child With Methylmalonic Acidemia Undergoing Oral Care and Dental Treatment Before Kidney Transplantation.

Hano K, Kato M, Miyajima R, et al.

Anesthesia progress 2024; (71(1)):39-41 doi:10.2344/anpr-70-03-10.

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.

Servais A, Zacchia M, Dehoux L, et al.

Kidney international reports 2024; (9(12)):3362-3374 doi:10.1016/j.ekir.2024.09.002.

Metabolic decompensation events among patients with propionic acidemia across the US: A large electronic medical record data study.

Sikirica V, Banerjee G, Perera S, et al.

Molecular genetics and metabolism 2025; (145(2)):109111 doi:10.1016/j.ymgme.2025.109111.

Continuous renal replacement therapy in a neonate with methylmalonic acidemia and severe hyperammonemia: A case report.

Lin B, Huang Y, Yu Y, et al.

Medicine 2025; (104(30)):e42046 doi:10.1097/MD.0000000000042046.

Impact of famotidine on blood carnitine levels and L-carnitine supplementation dose in tube-fed patients with severe motor and intellectual disabilities.

Sato N, Arakawa M, Urakawa Y, et al.

Die Pharmazie 2025; (80(9)):88-92 doi:10.1691/ph.2025.5570.

Natural Protein-Restricted Diets and Their Impact on Linear Growth in Patients with Propionic and Methylmalonic Acidemia: A Systematic Review.

Ramirez J, Leal-Witt MJ, Cabello JF, Cornejo V

Journal of personalized medicine 2025; (16(1)) doi:10.3390/jpm16010004.

Clinical and Genetic Characterization of Isolated Methylmalonic Acidemia in Malaysian Children: Identification of Two Novel MMUT Variants.

Masri M, Khalid N, Salleh N, et al.

Diagnostics (Basel, Switzerland) 2026; (16(5)) doi:10.3390/diagnostics16050755.

[N-carbamylglutamate in the treatment of neonatal organic acidemia crisis: a report of five cases].

Zhao HY, Liang H, Li GY, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2026; (28(5)):607-613 doi:10.7499/j.issn.1008-8830.2512091.

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases.

Meijer NWF, Koop K, Maase RE, et al.

International journal of neonatal screening 2026; (12(3)) doi:10.3390/ijns12030069.

Disease spectrum and genetic profile of high-risk children with severe carnitine deficiency.

Liu J, Xie Z, Xiao M, et al.

Pediatrics and neonatology 2026; doi:10.1016/j.pedneo.2026.04.012.