Research & Literature

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, et al.

Journal of inherited metabolic disease 2015; (38(6)):1059-74 doi:10.1007/s10545-015-9840-x.

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

Lampret BR, Murko S, Debeljak M, et al.

Biochemia medica 2015; (25(2)):279-84 doi:10.11613/BM.2015.029.

D-glyceric aciduria.

Dimer NW, Schuck PF, Streck EL, Ferreira GC

Anais da Academia Brasileira de Ciencias 2015; (87(2 Suppl)):1409-14.

Inborn Errors of Metabolism (Metabolic Disorders).

Rice GM, Steiner RD

Pediatrics in review 2016; (37(1)):3-15; quiz 16-7, 47 doi:10.1542/pir.2014-0122.

Metabolic emergencies and the emergency physician.

Fletcher JM

Journal of paediatrics and child health 2016; (52(2)):227-30 doi:10.1111/jpc.13106.

Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.

Erdöl Ş, Sağlam H

Journal of clinical research in pediatric endocrinology 2016; (8(3)):330-3 doi:10.4274/jcrpe.2288.

Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.

Kalim A, Fitzsimons P, Till C, et al.

Brain & development 2017; (39(6)):536-538 doi:10.1016/j.braindev.2017.01.005.

d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.

Swanson MA, Garcia SM, Spector E, et al.

Molecular genetics and metabolism 2017; (121(2)):80-82 doi:10.1016/j.ymgme.2017.04.009.

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.

Konkoľová J, Chandoga J, Kováčik J, et al.

BMC medical genetics 2017; (18(1)):59 doi:10.1186/s12881-017-0421-8.

Acute Illness Protocol for Maple Syrup Urine Disease.

Rodan LH, Aldubayan SH, Berry GT, Levy HL

Pediatric emergency care 2018; (34(1)):64-67 doi:10.1097/PEC.0000000000001299.

Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.

Schillaci LP, DeBrosse SD, McCandless SE

Pediatric clinics of North America 2018; (65(2)):209-230 doi:10.1016/j.pcl.2017.11.003.

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.

Chakrapani A, Valayannopoulos V, Segarra NG, et al.

Orphanet journal of rare diseases 2018; (13(1)):97 doi:10.1186/s13023-018-0840-4.

Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department.

Abdel Maksoud M, ELsayed SM, Shatla RH, et al.

Neuropsychiatric disease and treatment 2018; (14()):1715-1720 doi:10.2147/NDT.S165833.

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.

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.

Zehavi Y, Mandel H, Eran A, et al.

Metabolic brain disease 2019; (34(2)):557-563 doi:10.1007/s11011-019-0384-x.

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework.

Williams C, van der Meij BS, Nisbet J, et al.

Nutrition & dietetics : the journal of the Dietitians Association of Australia 2019; (76(2)):141-149 doi:10.1111/1747-0080.12517.

Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism.

Gold NB, Kritzer A, Weiner DL, Michelson KA

Pediatric emergency care 2021; (37(12)):e1154-e1159 doi:10.1097/PEC.0000000000001936.

d-Glycerate kinase deficiency in a neuropediatric patient.

Sass JO, Behringer S, Fernando M, et al.

Brain & development 2020; (42(2)):226-230 doi:10.1016/j.braindev.2019.11.008.

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Tingley K, Lamoureux M, Pugliese M, et al.

Orphanet journal of rare diseases 2020; (15(1)):89 doi:10.1186/s13023-020-01358-z.

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.

Rossi A, Hoogeveen IJ, Lubout CMA, et al.

Journal of inherited metabolic disease 2021; (44(5)):1124-1135 doi:10.1002/jimd.12386.

Orthopaedic Problems in 35 Patients With Organic Acid Disorders.

Prasad N, Gottlich C, Nhan D, et al.

Journal of pediatric orthopedics 2021; (41(6)):e457-e463 doi:10.1097/BPO.0000000000001812.

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Chow AJ, Pugliese M, Tessier LA, et al.

The patient 2022; (15(2)):171-185 doi:10.1007/s40271-021-00538-8.

Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.

Magdy RM, Abd-Elkhalek HS, Bakheet MA, Mohamed MM

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2022; (29(1)):36-43 doi:10.1016/j.arcped.2021.11.002.

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.

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.

Mason E, Hindmarch CCT, Dunham-Snary KJ

Endocrinology, diabetes & metabolism 2023; (6(1)):e385 doi:10.1002/edm2.385.

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Bozaci AE, Er E, Ünal AT, et al.

Molecular genetics and metabolism reports 2023; (36()):100979 doi:10.1016/j.ymgmr.2023.100979.

"Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II": Case Report.

Keshri S, Goel AK, Johns J, Shah S

Indian journal of clinical biochemistry : IJCB 2023; (38(4)):545-549 doi:10.1007/s12291-021-01007-7.

D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?

Kingma SDK, Steinbusch LKM, Aukema SM, et al.

Molecular genetics and metabolism reports 2024; (41()):101159 doi:10.1016/j.ymgmr.2024.101159.

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.

Harings T, Bertsche T, Thiele AG, et al.

Orphanet journal of rare diseases 2025; (20(1)):502 doi:10.1186/s13023-025-04046-y.

Human d-Glycerate Kinase, Encoded by GLYCTK and Deficient in d-Glyceric Aciduria, Is a Mitochondrial Enzyme.

Korwitz-Reichelt A, Schulke D, Walter M, Sass JO

Journal of inherited metabolic disease 2026; (49(1)):e70119 doi:10.1002/jimd.70119.

Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End?

Grosyeux C, Cammiciotto N, Jeannesson E, et al.

Critical care explorations 2026; (8(8)):e1413 doi:10.1097/CCE.0000000000001413.

Glutaric acidemia type 2 presenting as a surgical acute abdomen: a case of unnecessary exploratory laparotomy in an adult.

Bilal PK, Erkoç SK, Polat B, et al.

Archive of clinical cases 2026; (13(3)):108-111 doi:10.22551/2026.52.1303.10350.