Approaches for diagnosis and treatment in neurotransmitter disorders of childhood

Cengiz Havalı1, Sevil Dorum2, Arzu Ekici1, Özlem Görükmez3
1Department of Pediatrics, Division of Neurology, Bursa Yuksek İhtisas Training and Research Hospital, Yıldırım, Bursa, Turkey
2Department of Pediatrics, Division of Metabolism, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey
3Department of Medical Genetics, Bursa Yuksek İhtisas Training and Research Hospital, Bursa, Turkey

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Assmann B, Surtees R, Hoffmann GF (2003) Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol 54(Suppl 6):S18–S24

Brennenstuhl H, Jung-Klawitter S, Assmann B, Opladen T (2019) Inherited disorders of neurotransmitters: classification and practical approaches for diagnosis and treatment. Neuropediatrics 50(1):2–14

Brennenstuhl H et al (2020) High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots. J Inherit Metab Dis 43(3):602–610

Hyland K (2003) The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann Neurol 54(Suppl 6):S13–S17

Friedman J et al (2012) Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 71(4):520–530

Kurian MA, Gissen P, Smith M, Heales S Jr, Clayton PT (2011) The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol 10(8):721–733

Kuseyri Hübschmann O et al (2021) Brain MR patterns in inherited disorders of monoamine neurotransmitters: an analysis of 70 patients. J Inherit Metab Dis 44(4):1070–1082

Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F (2009) Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis 32:371–380

Opladen T, Hoffmann GF, Blau N (2012) An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis 35(6):963–973

Opladen T, López-Laso E, Cortès-Saladelafont E et al (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet J Rare Dis 15:126. https://doi.org/10.1186/s13023-020-01379-8

Pearl PL, Taylor JL, Trzcinski S, Sokohl A (2007) The pediatric neurotransmitter disorders. J Child Neurol 22(5):606–616

Pearson TS et al (2020) AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients. J Inherit Metab Dis 43(5):1121–1130

Pearson TS et al (2021) Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons. Nat Commun 12(1):4251

Rodan LH et al (2015) Clinical use of CSF neurotransmitters. Pediatr Neurol 53(4):277–286

Saini AG, Sharma S (2020) Movement disorders in inherited metabolic diseases in children. Ann Indian Acad Neurol 23(3):332–337

Swoboda KJ, Walker MA (2018) Neurotransmitter-related disorders. Swaiman's pediatric neurology. Swaiman K.F.: 886–896.

Wassenberg T et al (2017) Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis 12(1):12