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Approaches for diagnosis and treatment in neurotransmitter disorders of childhood


Neurotransmitter disorders are a group of neurometabolic syndromes caused by disturbances of neurotransmitter metabolism. The primary aim of this retrospective study is to present patients with disturbances of monoamine neurotransmitter metabolism. Cerebrospinal fluid (CSF) neurotransmitter measurements and genetic analysis were performed on five patients. Five patients who had various movement disorders and motor and cognitive disabilities were included. Four patients were diagnosed with sepiapterin reductase (SR) deficiency, and one was diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency. Different treatment responses appeared in patients with SR and AADC deficiency. The responses to drug treatment ranged from good to weak in our patients. The diagnosis process is challenging in patients with SR and AADC deficiency, which present similar clinical features to other neurological and metabolic diseases. Investigations of neurotransmitters in CSF and analysis of related genes are essential to differentiate disturbances of monoamine neurotransmitter metabolism from other neurometabolic diseases. For patients with monoamine neurotransmitter disorders, drugs that target these disturbances should be combined as necessary to produce the appropriate response.

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All data generated or analysed during this study are included in this published article (and its supplementary information files).


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The author would like to thank all our patients and their parents for teaching us about the diseases. Also, we thank Dr. Özkurt for his help in the laboratory.

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CH and SD wrote the manuscript. All authors contributed to the diagnosis, treatment and follow-up of patients and read and approved the final manuscript.

Corresponding author

Correspondence to Cengiz Havalı.

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This article does not contain any studies with human participants or animals performed by any of the authors.

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No potential conflict of interest, this research was no partially or fully sponsored by any financial assistance.

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Supplementary Information

Pretreatment and posttreatment video recording of patient 1 (MP4 3081 kb)

Pretreatment and posttreatment video recording of patient 1 (MP4 1069 kb)

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Havalı, C., Dorum, S., Ekici, A. et al. Approaches for diagnosis and treatment in neurotransmitter disorders of childhood. Metab Brain Dis (2021).

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  • Inherited neurotransmitter disorders
  • Sepiapterin reductase
  • AADC deficiency movement disorders
  • Monoamine metabolism