Research & Literature

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.

Mazzuca M, Maubert MA, Damaj L, et al.

JIMD reports 2015; (22()):47-55 doi:10.1007/8904_2015_410.

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.

Zielonka M, Makhseed N, Blau N, et al.

JIMD reports 2015; (24()):109-13 doi:10.1007/8904_2015_450.

Dopa-responsive dystonia--clinical and genetic heterogeneity.

Wijemanne S, Jankovic J

Nature reviews. Neurology 2015; (11(7)):414-24 doi:10.1038/nrneurol.2015.86.

Clinical Use of CSF Neurotransmitters.

Rodan LH, Gibson KM, Pearl PL

Pediatric neurology 2015; (53(4)):277-86.

Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.

Porta F, Ponzone A, Spada M

The Journal of pediatrics 2016; (168()):236-239.e1 doi:10.1016/j.jpeds.2015.09.062.

Burke-Fahn-Marsden dystonia severity, Gross Motor, Manual Ability, and Communication Function Classification scales in childhood hyperkinetic movement disorders including cerebral palsy: a 'Rosetta Stone' study.

Elze MC, Gimeno H, Tustin K, et al.

Developmental medicine and child neurology 2016; (58(2)):145-53 doi:10.1111/dmcn.12965.

What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.

Friedman JR

Pediatric neurology 2016; (59()):76-80.

Drug-Induced Dyskinesia, Part 1: Treatment of Levodopa-Induced Dyskinesia.

Vijayakumar D, Jankovic J

Drugs 2016; (76(7)):759-77 doi:10.1007/s40265-016-0566-3.

Status dystonicus in childhood.

Touati N, Ben Rhouma H, Kraoua I, et al.

La Tunisie medicale 2015; (93(12)):756-9.

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.

Opladen T, Cortès-Saladelafont E, Mastrangelo M, et al.

Molecular genetics and metabolism reports 2016; (9()):61-66 doi:10.1016/j.ymgmr.2016.09.006.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, et al.

American journal of human genetics 2017; (100(2)):257-266 doi:10.1016/j.ajhg.2017.01.002.

Dystonic storm: a practical clinical and video review.

Termsarasab P, Frucht SJ

Journal of clinical movement disorders 2017; (4()):10 doi:10.1186/s40734-017-0057-z.

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.

Souza CAA, Alves MRA, Soares RDL, et al.

Jornal de pediatria 2018; (94(2)):170-176 doi:10.1016/j.jped.2017.04.005.

Clinical presentation and management of dyskinetic cerebral palsy.

Monbaliu E, Himmelmann K, Lin JP, et al.

The Lancet. Neurology 2017; (16(9)):741-749 doi:10.1016/S1474-4422(17)30252-1.

[Tetrahydrobiopterin (BH4) deficiency - diagnosis and treatment].

Bókay J

Orvosi hetilap 2017; (158(48)):1897-1902 doi:10.1556/650.2017.30895.

Outcome of Patients With Inherited Neurotransmitter Disorders.

Cordeiro D, Bullivant G, Cohn RD, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018; (45(5)):571-576 doi:10.1017/cjn.2018.266.

Monoamine neurotransmitters and movement disorders in children and adults.

Doummar D, Moussa F, Nougues MC, et al.

Revue neurologique 2018; (174(9)):581-588 doi:10.1016/j.neurol.2018.07.002.

Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report.

Feng B, Sun G, Kong Q, Li Q

Medicine 2018; (97(44)):e12870 doi:10.1097/MD.0000000000012870.

Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia.

Bao PZ, Ye J, Han LS, et al.

World journal of pediatrics : WJP 2019; (15(1)):66-71 doi:10.1007/s12519-018-0202-2.

Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future.

Jung-Klawitter S, Kuseyri Hübschmann O

Cells 2019; (8(8)) doi:10.3390/cells8080867.

Status dystonicus: management and prevention in children at high risk.

Iodice A, Pisani F

Acta bio-medica : Atenei Parmensis 2019; (90(3)):207-212 doi:10.23750/abm.v90i3.7207.

Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene.

Froukh T

Pakistan journal of medical sciences 2019; (35(6)):1736-1739 doi:10.12669/pjms.35.6.1181.

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Chen Y, Bao X, Wen Y, et al.

Frontiers in pediatrics 2020; (8()):83 doi:10.3389/fped.2020.00083.

Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in TH gene in an Indian patient.

Bijarnia-Mahay S, Jain V, Thöny B

JIMD reports 2020; (53(1)):12-15 doi:10.1002/jmd2.12111.

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Opladen T, López-Laso E, Cortès-Saladelafont E, et al.

Orphanet journal of rare diseases 2020; (15(1)):126 doi:10.1186/s13023-020-01379-8.

Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review.

Dong HY, Feng JY, Yue XJ, et al.

Medicine 2020; (99(33)):e21753 doi:10.1097/MD.0000000000021753.

Status Dystonicus as an Acute Sequelae Following Anoxic Cerebral Damage.

Ray S, Sidhu RJS, Pal PK, Yadav R

Tremor and other hyperkinetic movements (New York, N.Y.) 2019; (9()):1-4 doi:10.5334/tohm.564.

Levalbuterol lowers the feedback inhibition by dopamine and delays misfolding and aggregation in tyrosine hydroxylase.

Flydal MI, Kråkenes TA, Tai MDS, et al.

Biochimie 2021; (183()):126-132 doi:10.1016/j.biochi.2020.12.002.

Status dystonicus associated with CLN8 disease.

Yıldırım M, Köse E, Keçeli AM, et al.

Brain & development 2021; (43(4)):571-575 doi:10.1016/j.braindev.2020.12.005.

Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.

Cherian A, Paramasivan NK, Divya KP

Acta neurologica Belgica 2021; (121(3)):613-623 doi:10.1007/s13760-020-01574-1.

Functional Dystonia: Differentiation From Primary Dystonia and Multidisciplinary Treatments.

Frucht L, Perez DL, Callahan J, et al.

Frontiers in neurology 2020; (11()):605262 doi:10.3389/fneur.2020.605262.

Precision medicine for genetic childhood movement disorders.

Soo AKS, Ferrini A, Kurian MA

Developmental medicine and child neurology 2021; (63(8)):925-933 doi:10.1111/dmcn.14869.

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.

Himmelreich N, Blau N, Thöny B

Molecular genetics and metabolism 2021; (133(2)):123-136 doi:10.1016/j.ymgme.2021.04.003.

Series of Dopa Responsive Dystonia Masquerading as Other Diseases with Short Review.

Mishra S, Mallick AK, Panigrahy D, et al.

Journal of pediatric neurosciences 2020; (15(4)):421-425 doi:10.4103/jpn.JPN_74_19.

Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

Bozaci AE, Er E, Yazici H, et al.

JIMD reports 2021; (59(1)):42-51 doi:10.1002/jmd2.12199.

Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.

Wassenberg T, Geurtz BPH, Monnens L, et al.

Molecular genetics and metabolism reports 2021; (27()):100762 doi:10.1016/j.ymgmr.2021.100762.

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Keller M, Brennenstuhl H, Kuseyri Hübschmann O, et al.

Journal of inherited metabolic disease 2021; (44(6)):1489-1502 doi:10.1002/jimd.12416.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, et al.

Nature communications 2021; (12(1)):5529 doi:10.1038/s41467-021-25515-5.

ACTH for epileptic spasms in Leigh syndrome with SLC19A3 mutation can induce status dystonicus.

Hoshino H, Kanemura H

Epileptic disorders : international epilepsy journal with videotape 2022; (24(1)):171-175 doi:10.1684/epd.2021.1374.

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.

Weissbach A, Pauly MG, Herzog R, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(2)):237-252 doi:10.1002/mds.28874.

A case of treatable encephalopathy, developmental regression, and proximal tremor.

Hull M, Emrick L, Sadat R, Parnes M

Parkinsonism & related disorders 2021; (93()):111-113 doi:10.1016/j.parkreldis.2021.04.020.

Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene-disrupted mice.

Sumi-Ichinose C, Suganuma Y, Kano T, et al.

Journal of inherited metabolic disease 2022; (45(3)):621-634 doi:10.1002/jimd.12489.

Status Dystonicus in Children: A Cross-Sectional Study and Review of Literature.

Saini AG, Hassan I, Sharma K, et al.

Journal of child neurology 2022; (37(6)):441-450 doi:10.1177/08830738221081593.

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency.

Hyodo Y, Akiyama T, Fukuyama T, et al.

Clinica chimica acta; international journal of clinical chemistry 2022; (534()):167-172 doi:10.1016/j.cca.2022.07.016.

Case Report: Dystonic Storm Following Japanese Encephalitis Virus Infection.

Ghosh R, Dubey S, Das S, Benito-León J

The American journal of tropical medicine and hygiene 2022; (107(3)):557-559 doi:10.4269/ajtmh.22-0020.

Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency.

Champagne M, Horvath GA, Perreault S, et al.

JIMD reports 2022; (63(5)):400-406 doi:10.1002/jmd2.12306.

Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.

Chen Y, Liu K, Yang Z, et al.

Frontiers in genetics 2022; (13()):929069 doi:10.3389/fgene.2022.929069.

Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report.

Reyes ZMD, Lynch E, Henry J, et al.

BMC medical genomics 2023; (16(1)):78 doi:10.1186/s12920-023-01510-1.

The changing face of reported status dystonicus - A systematic review.

Lumsden DE, Cif L, Capuano A, Allen NM

Parkinsonism & related disorders 2023; (112()):105438 doi:10.1016/j.parkreldis.2023.105438.

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.

Engin Erdal A, Kıreker Köylü O, Ceylan AC, et al.

Molecular syndromology 2024; (15(2)):130-135 doi:10.1159/000534587.

Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus.

Vogt LM, Yang K, Tse G, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(9)):1435-1445 doi:10.1002/mds.29794.

Aromatic Amino Acid Hydroxylases as Off-Targets of Histone Deacetylase Inhibitors.

Baumann A, Papenkordt N, Robaa D, et al.

ACS chemical neuroscience 2024; (15(22)):4143-4155 doi:10.1021/acschemneuro.4c00346.

Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency.

Akbeyaz İH, Ünver O, Öztürk G, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(2)):196-200 doi:10.1515/jpem-2024-0515.

Novel SPR mutation in first Chinese patient with sepiapterin reductase deficiency: urinary biomarker validation in oldest treated case.

Zheng X, Ying C, Xie F, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(8)):4011-4015 doi:10.1007/s10072-025-08219-2.

Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.

Pons R, Pearson TS, Perez-Dueñas B, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(8)):1669-1679 doi:10.1002/mds.30219.

Dopa-responsive dystonia and phenotypes associated with TH gene variants: a systematic review and Mexican case series.

Lopez-Urias CU, Monroy-Jaramillo N, Barreda Fierro R, Ramírez-García MÁ

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(9)):4181-4192 doi:10.1007/s10072-025-08246-z.

The utility of creatine kinase in status dystonicus and pre-status dystonicus.

Lumsden DE, Papandreou A, Allen NM, Lin JP

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2025; (57()):57-63 doi:10.1016/j.ejpn.2025.05.013.

Pediatric Status Dystonicus: A Single-Center 10-Year Retrospective Review.

Peacock DJSJ, Vithlani K, Clarke GA, et al.

Movement disorders clinical practice 2025; (12(12)):2247-2252 doi:10.1002/mdc3.70282.

Refractory "status dyskineticus" in a child with post-herpes simplex virus 1 N-methyl-D-aspartate receptor encephalitis: a case report.

Santagostino Barbone A, De Grandis E, Giacomini T, et al.

BMC neurology 2025; (25(1)):368 doi:10.1186/s12883-025-04346-7.

Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases.

Ban T, Cheng Y, Zhang Y, et al.

Movement disorders clinical practice 2026; (13(4)):907-913 doi:10.1002/mdc3.70371.

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Bondarenko MS, Kuseyri Hübschmann O, Kulhánek J, et al.

Journal of inherited metabolic disease 2025; (48(6)):e70106 doi:10.1002/jimd.70106.

L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment.

Karataş B, Güleç A, YiğitSezer Ö, et al.

Neurogenetics 2025; (26(1)):84 doi:10.1007/s10048-025-00865-0.

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Shi TS, Jung-Kc K, Lyu GW, et al.

Journal of inherited metabolic disease 2026; (49(2)):e70169 doi:10.1002/jimd.70169.

Chinese expert consensus on the diagnostic definition of cerebral palsy.

Jiang W, Zhu D, Tang X, et al.

BMJ paediatrics open 2026; (10(1)) doi:10.1136/bmjpo-2025-004217.

The psychological impact of pediatric movement disorders on families: brief report.

AlGethami H

Frontiers in pediatrics 2026; (14()):1754852 doi:10.3389/fped.2026.1754852.

Status Dystonicus: An Updated Review on Diagnosis, Pathophysiology, and Management.

Desai VN, Garg A, Bhattacharya A, et al.

Annals of Indian Academy of Neurology 2026; (29(4)):501-509 doi:10.4103/aian.aian_1122_25.

A Case Report of Infantile Dopa-Responsive Dystonia Onset With Sleep Disorder Complicated With Autism Spectrum Disorder.

Shao L, Zhang J, Wang Q

British journal of hospital medicine (London, England : 2005) 2026; (87(8)):49819 doi:10.31083/BJHM49819.