1.What is genetic metabolic disease? What is the significance of metabolism to the human body? Genetic metabolism (or simply referred to as metabolism) is a general term for the changes in various substances catalyzed by various active enzymes that occur within the living organism. It is now known that the human body has more than 20,000 functional genes that produce tens of thousands of active enzymes catalyzed by metabolism to make our body “rapidly changing”! The main roles of metabolism are: (1) to provide the body with energy for cellular and organ activities; (2) to provide the body with active nutrients; (3) to excrete toxic products. Normal anabolism is the prerequisite for the body to maintain various functions and the basis for the growth and development of children, while normal catabolism is the necessary way for the body to remove various metabolic wastes and maintain the vitality of organs. Normal metabolism and endocrinology influence and support each other. Normal metabolism is the basis for normal development and function of the endocrine system, while normal endocrinology is also a prerequisite for normal enzymes and metabolism. Normal metabolism and endocrine are the basis for normal growth and development of children. A normal metabolism is a healthy body. Metabolic abnormalities generally include excessive increase in substrates, decrease in organic products needed by the body and accumulation of harmful metabolites, when a person is in a state of suboptimal health or disease, i.e., suffering from a genetic metabolic disease. Metabolic diseases can be divided into energy-deficient, nutrient-deficient and mixed types in terms of their functional role. Mild metabolic diseases affect the function of the corresponding organs and affect the growth and development of children; severe metabolic diseases cause multiple organ dysfunction or failure and can lead to death. Metabolic therapy is a treatment method to achieve normal metabolism by maintaining normal intracellular enzymatic reactions and a stable internal environment, and metabolic examinations should be conducted prior to the clinical treatment of various systemic diseases to make scientific and correct judgments and effective treatment. If metabolic abnormalities in fetuses, newborns and infants aged 0-6 months are not screened and treated early, they may affect later growth and development and lead to brain, heart, liver and kidney damage or developmental disorders, resulting in deformities, mental retardation or premature death. Therefore, infants should be screened early for metabolic abnormalities such as inadequate energy supply, lack of growth and developmental substances, and retention of abnormal metabolites in the body. Metabolic screening and metabolic treatment in pediatric period is the prerequisite basis for growth and developmental health care and clinical treatment. 2.What are the common metabolic diseases in newborns and pediatric patients? 2.1 Abnormalities of water, salt, mineral and vitamin metabolism: dehydration, water-sodium retention, water toxicity, electrolyte disorders 2.2 Vitamin deficiency or toxicity 2.3 Abnormalities of glucose metabolism: hypoglycemia, hyperglycemia, diabetes, glycogen storage disease, mucopolysaccharide storage disease 2.4 Abnormalities of protein (amino acid): protein (amino acid) deficiency or metabolic disorders 2.5 Abnormalities of fat metabolism: low free carnitine, lipotrophy, short-chain-very long-chain deficiency, short-chain-very long-chain metabolism 2.6 Metabolic acidosis and other toxic product retention: 2.6.1 Metabolic acidosis 2.6.2 Hyperammonia 2.6.3 Hyperbilirubin jaundice 2.6.4 Hyperglutathione aminotransferase (GPT), hyperglutathione aminotransferase (GOT) 2.6. 5 High alpha-fetoprotein (AFP) 2.6.6 High gamma-transpeptidase (gamma-GT) 2.6.7 High bile acids 2.6.8 High lactate dehydrogenase (LDH), high creatine kinase (CK), high creatine kinase isoenzyme (CK-MB) 2.6.9 High lactate, high urinary ketone bodies 2.6.10 High uric acid 2.7 Mitochondrial metabolic disorders 2.8 Lysosomal metabolic disorders