A brief description of hereditary metabolic disorders 1, concept Inherited metabolic disorders, is a general term for inherited biochemical metabolic defects. When mutations occur in the genes encoding the proteome and inactive products cannot be synthesized or synthesized, it leads to the failure of the relevant metabolic pathways to function normally, resulting in various metabolic defects with different clinical phenotypes. 2. Classification According to the characteristics of the involved biochemical metabolites, hereditary metabolic diseases can be divided into metabolic defects of sugar, amino acids, organic acids, lipids, nucleotides, pigments, metals, etc., and also include lysosomal diseases, peroxisomal diseases and mitochondrial diseases. The pathophysiological changes can be broadly classified as follows: (1) Metabolite deficiency: The symptoms produced are mostly persistent, progressive and not related to feeding, such as peroxisomal disease. (2) Large accumulation of intermediate and or, bypass metabolites: usually leads to toxic symptoms, such as vomiting, lethargy, coma, growth retardation, hypoglycemia, hyperammonemia, acidosis, etc. The onset is either early or late, often preceded by asymptomatic periods or intermittent episodes, such as phenylketonuria, methylmalonic aciduria, maple glycosuria, galactosemia, etc. (3) Inadequate energy supply to vital organs: such as impaired glucose metabolism, congenital hyperlactatemia, fatty acid oxidation defects, mitochondrial respiratory chain dysfunction, etc. Hypoglycemia, hyperlactatemia, hypotonia, and lack of weight gain are common. (1) Autosomal dominant: ankylosing myasthenia gravis, Huntington’s chorea, etc. (2) Autosomal recessive inheritance: small non-beta lipoproteinemia, Wilson disease, Marinesco-Sjogren syndrome, Cornelia-delange syndrome, Cockayne syndrome, primary hypercalcemia, Lau-Mont-Bi syndrome, Smith-Lemli-Opitz syndrome, etc. (3) Sex-linked recessive inheritance: such as mucopolysaccharide type II Hunter heavy, Lesch-Myhan syndrome in purine metabolic disease, etc. (4) Sex-linked dominant inheritance: less common, such as ornithine carbamoyltransferase deficiency disease, etc. Although single hereditary metabolic diseases are rare, there are many kinds of them, so the overall incidence is not low, and they are harmful, especially often involving the nervous system in the early stage. Therefore, prenatal diagnosis, early diagnosis, early intervention and early rehabilitation of these diseases are very important to avoid the occurrence of disability. With the continuous development of biochemical analysis technology and molecular genetics technology, various enzymatic tests, gas phase chromatography, high pressure liquid chromatography HPLC,, gas chromatography-mass spectrometry GC/MS, tandem mass spectrometry MS/MS, genetic diagnosis technology, etc. are widely used in clinical practice, which provide accurate diagnostic basis for the diagnosis of hereditary metabolic diseases. II. Treatment and rehabilitation At present, there is still no special treatment for most hereditary metabolic diseases, but many of them can be effectively controlled by corresponding symptomatic or supportive treatment. The principles of treatment are to reduce the accumulation, replenish what is needed, and promote excretion. Abnormalities of amino acid, organic acid, fatty acid and sugar metabolism are mostly treated by diet, and some disorders can be treated by vitamins and coenzymes. Very few metabolic diseases can be corrected by enzyme replacement therapy, hematopoietic stem cell transplantation, organ transplantation, and gene therapy is still under investigation. The more common clinical problems of hereditary metabolic diseases are mental retardation, motor disorders, language disorders and abnormal psycho-behavioral development, which are sometimes managed without special diet or drugs such as myo-ocular encephalopathy, and many patients have prominent neurological sequelae after definite diagnosis and treatment with diet and drugs, etc. The neurological recovery of such patients is also a long process such as multiple carboxylase deficiency diseases caused by The neurological rehabilitation of such patients is also a long process, such as the sequelae of brain injury caused by various carboxylase deficiency diseases, and the clinical rehabilitation of motor, intellectual and language disorders is described as follows, combined with the clinical practice of our hospital for many years, for the discussion and reference of colleagues in the treatment of genetic metabolic diseases. Modern medical rehabilitation: mainly includes physical therapy PT, occupational therapy OT, physical factor therapy, sensory integration training and other methods. 1.Physical therapy: Also known as physical therapy PT, or “physiotherapy” in Japanese, is a series of training for various movement disorders using mechanical and physical stimulation, mainly gross motor and lower limb function training. The aim is to improve function, suppress abnormal postural reflexes, and induce normal motor development. The more commonly used methods at home and abroad are Vojta method, Bobath method, Peto method, Rood method, Doman-Delecato method, Phelps method, Ueda method, Brunnstrom method, PNF proprioception, method, NDT, Ayres method, etc. 2.Operational therapy OT: It refers to the application of purposeful and selective operational activities for the treatment and training of patients with physical, mental and developmental dysfunctional disabilities or those who have lost the ability to take care of themselves and occupational labor to varying degrees, so as to restore, improve and enhance their ability to live, learn and work; Occupational therapy for child patients; geriatric occupational therapy. 3.Physical factor therapy: The application of physical factor therapy in rehabilitation medicine is mainly through the absorption and conversion of physical factors such as electricity, light, magnetism, cold, heat and sound energy, which cause many biophysical and biochemical reactions in the body and produce local and systemic physiological reactions through the neurohumoral mechanism, and play a therapeutic role. Specific ways are electrical stimulation therapy, biofeedback therapy, hydrotherapy, etc. 4, sensory integration training treatment: sensory integration disorder: refers to the external sensory stimulation information can not be effectively combined in the central nervous system, so that the whole body can not operate in harmony, over time, it will cause a variety of psychological disorders and diseases. In children with sensory integration disorder, their cognitive and adaptive abilities will be weakened to varying degrees and socialization will be delayed. Surgery: Fetal brain transplantation, neural stem cell transplantation, SPR surgery, Achilles tendon lengthening, hand orthopedics, adductor muscle amputation, anterior branch amputation of closed nerve, etc. Traditional medicine rehabilitation 1, acupuncture treatment: acupuncture therapy has the function of unblocking the meridians, regulating qi and blood, regulating yin and yang, and supporting the positive and eliminating the evil. The method is simple, safe, no side effects, easy for parents and children to accept. 2, massage therapy: massage, also known as massage, is based on the role of force, through a variety of techniques to stimulate the child’s meridians and acupoints, causing a system of physiological effects, so that the circulation of qi and blood, yin and yang and thus achieve the purpose of treatment.