Approaches for diagnosis and treatment in neurotransmitter disorders of childhood.
AADC deficiency movement disorders
Inherited neurotransmitter disorders
Monoamine metabolism
Sepiapterin reductase
Journal
Metabolic brain disease
ISSN: 1573-7365
Titre abrégé: Metab Brain Dis
Pays: United States
ID NLM: 8610370
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
received:
15
04
2021
accepted:
01
09
2021
pubmed:
23
9
2021
medline:
8
4
2022
entrez:
22
9
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34550503
doi: 10.1007/s11011-021-00838-w
pii: 10.1007/s11011-021-00838-w
doi:
Substances chimiques
Neurotransmitter Agents
0
Aromatic-L-Amino-Acid Decarboxylases
EC 4.1.1.28
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2255-2262Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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