Insights into neurometabolic diseases

Souravh Bais; Renu Kumari; Nirmal Dongre; Aakash Singh Panwar; Souravh Bais; Renu Kumari; Nirmal Dongre; Aakash Singh Panwar

doi:10.3934/molsci.2024008

AIMS Molecular Science

2024, Volume 11, Issue 2: 116-139. doi: 10.3934/molsci.2024008

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Review Topical Sections

Insights into neurometabolic diseases

Institute of Pharmaceutical Science SAGE University, Indore [M.P.], 470002, India

Received: 05 January 2024 Revised: 21 February 2024 Accepted: 23 February 2024 Published: 27 March 2024

Background
Neurometabolic diseases are the results of genetic changes that lead to an imbalance in energy utilization and metabolism.

Aim
Our aim was to explore the update in treatment and diagnosis of neurometabolic disease.

Methods
PubMed, Scopus, Google scholar, and the web of science were searched for studies reported in the last 20 years (1997–30/10/2020). The data was searched and archived by keywords like “Neurometabolic”, “neurogenesis”, and “role of neuro-degeneration in neurometabolic disease” without narrowing or limiting search items. Only abstracts of searched publications were reviewed. A total of 389 publications were found in the initial research, in which 62 publications were considered for the study and the remaining were excluded because of their specificity to the subject.

Study update
The neurometabolic disease affects one in 500 newborns, causing a major burden of illness and infant mortality. However, the cause of the disease is unclear in up to 50% of neurological-like cases. Thus, we ask why are they referred to as neurometabolic disorders (NMD), despite extensive genetic and biochemistry investigations? Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. Except for some notable exceptions, treatment remains largely unsatisfactory. Therefore, research efforts concentrate on corrective genetic approaches applicable after early detection by newborn screening or before fertilization. We considered recent studies on treating neurometabolic diseases. We focused on the most common neurometabolic diseases and the associated clinical advancements in their therapy.
- neurometabolic disease,
- clinical treatment,
- gene,
- metabolism,
- obesity
Citation: Souravh Bais, Renu Kumari, Nirmal Dongre, Aakash Singh Panwar. Insights into neurometabolic diseases[J]. AIMS Molecular Science, 2024, 11(2): 116-139. doi: 10.3934/molsci.2024008

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Abstract

Background

Neurometabolic diseases are the results of genetic changes that lead to an imbalance in energy utilization and metabolism.

Aim

Our aim was to explore the update in treatment and diagnosis of neurometabolic disease.

Methods

PubMed, Scopus, Google scholar, and the web of science were searched for studies reported in the last 20 years (1997–30/10/2020). The data was searched and archived by keywords like “Neurometabolic”, “neurogenesis”, and “role of neuro-degeneration in neurometabolic disease” without narrowing or limiting search items. Only abstracts of searched publications were reviewed. A total of 389 publications were found in the initial research, in which 62 publications were considered for the study and the remaining were excluded because of their specificity to the subject.

Study update

The neurometabolic disease affects one in 500 newborns, causing a major burden of illness and infant mortality. However, the cause of the disease is unclear in up to 50% of neurological-like cases. Thus, we ask why are they referred to as neurometabolic disorders (NMD), despite extensive genetic and biochemistry investigations? Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. Except for some notable exceptions, treatment remains largely unsatisfactory. Therefore, research efforts concentrate on corrective genetic approaches applicable after early detection by newborn screening or before fertilization. We considered recent studies on treating neurometabolic diseases. We focused on the most common neurometabolic diseases and the associated clinical advancements in their therapy.

Acknowledgments

Authors want thank SAGE University Indore for providing necessary research facilities for conducting this study.

Conflict of interest

The authors confirm that this chapter contents have no conflicts of interest.

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