Genetic metabolic disorders are receiving increasing attention in pediatric medicine as the disease spectrum changes. Genetic metabolic disorders often result in multisystem damage, with neurological involvement predominant, and can occur from fetal to adult ages, with many patients starting in the neonatal period. Genetic metabolic disorders are a general term for hundreds of inborn metabolic defects of amino acids, organic acids, sugars, fats, hormones, etc. Although each disorder is rare, the cumulative prevalence is considerable and harmful due to the wide variety of diseases. In recent decades, with the development of biochemistry and molecular biology, great progress has been made in the diagnosis, treatment and prevention of various disorders. Most of the genetic metabolic disorders are monogenic, with autosomal recessive inheritance being the most common and a few being autosomal dominant, companion x recessive or dominant. Gene mutations cause abnormal structure or function of related proteins, resulting in enzyme defects or abnormal cell membrane function, leading to disorders of biochemical metabolism of the body, accumulation of predecessor substances, production of bypass metabolites, and reduced production of physiologically active substances. The clinical manifestations of hereditary metabolic diseases lack specificity. The following clinical manifestations often suggest the possibility of hereditary metabolic diseases: delayed, stagnant, or even regressed intellectual and motor development. Intractable convulsions, epilepsy. Mental developmental abnormalities (e.g., autism). Recurrent vomiting with no apparent cause. Aggravation after consumption of certain foods (e.g. meat, eggs, milk).