Research Topic · Peer-Reviewed

Inherited Metabolic Diseases

Inherited metabolic diseases are a type of genetic disorder caused by mutations in genes responsible for the body’s ability to properly metabolize specific compounds. They can lead to a range of symptoms, from mild physical to serious neurological issues, and sometimes even death. Examples include Tay-Sachs disease,…

Curated from this journal's research 📚 1 peer-reviewed article cited 🔖 ISSN 3144-7090

Overview

Inherited metabolic diseases are a type of genetic disorder caused by mutations in genes responsible for the body’s ability to properly metabolize specific compounds. They can lead to a range of symptoms, from mild physical to serious neurological issues, and sometimes even death. Examples include Tay-Sachs disease, cystic fibrosis, and phenylketonuria. Diagnosis and early detection of these diseases is important, as some can be treated through dietary and lifestyle changes, while others require well-managed medical care. It is important to raise awareness of these conditions so that individuals and families at risk can be tested and receive the necessary treatment.

Research published in this journal

1 peer-reviewed article, ranked by relevance. Each links to its DOI.

Editorial oversight

Curated from peer-reviewed research published in Journal of Advanced Therapeutic Science (ISSN 3144-7090).

Journal editorial board
Canan HASCICEK · Turkey Dong-Kug Choi · South Korea Feng Ding · China

This page summarises published research for orientation; it is not medical or professional advice.