.png){kind=icon}
.png){kind=icon}
Return
Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India
.png){kind=icon}
OA
AI
R
V
L
R
DOI：10.1186/s13023-026-04309-2.png)
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
Monoamine neurotransmitter metabolic disorders (mNMDs) are a diverse group of rare genetic conditions caused by disruptions in the metabolism of catecholamines (dopamine, epinephrine, and norepinephrine) and serotonin. These disorders predominantly affect children, often manifesting as neurodevelopmental and mental health challenges. Despite their clinical significance, there is a conspicuous lack of comprehensive reviews focused on the Indian population. The prevalence and distribution of mNMDs within India remain largely unexplored, underlining an urgent need for systematic data collection and analysis. This review aims to address this knowledge gap by compiling individual case reports of mNMDs documented in India, identifying genetic factors contributing to these conditions, and describing their manifestations. It provides an overview of diagnosed cases of mNMDs from various hospitals across the country, emphasizing the current limitations of diagnostic tools and the need for specialized testing. By illuminating mNMDs occurrence and clinical characteristics in India, this review seeks to encourage greater awareness about these disorders in India and the need to develop effective diagnostic and therapeutic strategies.
Keywords:
Monoamine neurotransmitter disorders
Tyrosine hydroxylase
Aromatic L-amino acid decarboxylase
GTPCH1
Tetrahydrobiopterin
Oculogyric crisis
Dopamine
Serotonin
Rare genetic disorders
Hyperphenylalaninemia
AI Summary
Key information extracted from the uploaded paper, including a brief overview, abstract, background, key highlights, visual analysis, and future outlook.
Journal
IF:
3.5
Papers:
4.9K
Citations:
1.5W
Organization
Cited Papers